Tag: neurology

Is Spinal Muscular Atrophy a Disability? Symptoms & Treatment

spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) is a debilitating disease

Spinal muscular atrophy (SMA) is a debilitating disease that can be classified as a disability if symptoms are severe enough to cause significant impairments. SMA is hereditary and progressive, affecting both the central and peripheral nervous systems as well as voluntary muscle function. 

The disease destroys motor neurons in the brainstem and spinal cord. Motor neurons are nerve cells responsible for skeletal muscle function, which include muscles in our arms, legs, chest, face, throat and tongue. Destruction of motor neurons disrupts the signals from the neurons to the muscles, and over time, the muscles gradually weaken and waste away (atrophy).

Who is affected by the disease?

The earlier in life the disease develops, the more severe it is:

  • Approximately 60% of children with spinal muscular atrophy are born with the condition or develop it within the first 6 months of life. Children who develop spinal muscular atrophy after 6 months of age may be able to sit, depending on the severity, but most cannot walk. 
  • Children who develop the disease in their teens may initially have muscle weakness, but some eventually lose the ability to stand or walk.
  • Adult onset of spinal muscular atrophy is rare and accounts for only about 5% of cases. People who develop spinal muscular atrophy as adults usually have muscle weakness, but most are able to manage the condition with treatment and exercise and remain mobile throughout their lives.

What are the signs and symptoms of spinal muscular atrophy?

Symptoms vary depending on the type and severity of the disease. Some people are never able to sit, stand or walk, and some lose these abilities gradually due to increasing muscle loss with age. 

There are five types of spinal muscular atrophy:

Type 0 (SMA0)

Type 0 SMA is the rarest and most severe form, developing in babies in the womb. Fetal movement decreases and the baby is born with congenital heart defects, breathing difficulty, facial paralysis (facial diplegia), low muscle tone (hypotonia) and muscle weakness.

Type 1 (SMA1)

Also known as Werdnig-Hoffman disease, type 1 is a severe form of SMA that presents at birth or develops before a baby is six months old. 

A child with type 1 SMA cannot sit up without support, and has trouble breathing, sucking and swallowing.

Type 2 (SMA2)

Type 2 accounts for about 20% of SMA cases and develops in children between 6-18 months of age. Also known as intermediate SMA or Dubowitz disease, type 2 SMA usually affects the legs more than the arms. 

An affected child may be able to sit without support but may not be able to stand or walk, and some may have respiratory difficulties, abnormal faces and microcephaly.

Type 3 (SMA3)

Also known as juvenile onset SMA or Kugelberg-Welander disease, type 3 SMA is a milder form of the disease that develops after 18 months of age and makes up 30% of all SMA cases. 

Children with type 3 SMA are able to stand and walk without support, but have difficulty running, climbing stairs and getting up from a chair. Most patients develop foot deformities, sideways spine curvature (scoliosis) and respiratory issues, and eventually become wheelchair-dependent.

Type 4 (SMA4)

Type 4 SMA is a mild form that develops in adulthood, usually after age 30. It accounts for less than 5% of all SMA cases.

Symptoms may include muscle weakness, twitching and breathing difficulties. Most people with type 4 SMA are able to maintain mobility with appropriate treatment and exercise.

What causes spinal muscular atrophy?

SMA is caused by inherited genetic defects. The most common form of the disease is caused by mutations in both copies of a gene known as survival motor neuron 1 (SMN1) on chromosome 5. The SMN1 gene encodes SMN protein, which maintains the health and normal functioning of motor neurons.

In 95%-98% of SMA cases, both copies of SMN1 gene are missing. About 2.5% have mutations that cause low production of SMN protein. A low level of SMN protein results in the destruction of motor neurons; as a result, the skeletal muscles weaken and waste away. This can lead to disability and even death in severe cases.

Many people with defective SMN1 usually have extra copies of the SMN2 gene, which mostly produces shorter-length SMN proteins. But it also produces a small amount (10%-15%) of functional full-length SMN protein. Some people may have even up to 8 copies of the SMN2 gene which increases the level of functional SMN protein and results in milder forms of the disease.

If someone has a mutation in one copy of a SMN1 gene, they may not be affected by the disease but can be a carrier and pass it on to their child. If both parents are carriers of SMN1, a child has about a 25% chance of developing SMA. 

Less common forms of SMA are caused by mutations in other genes which include:

  • VAPB gene on chromosome 20
  • DYNC1H1 gene on chromosome 14
  • BICD2 gene on chromosome 9
  • UBA1 gene on X chromosome

With the exception of the UBA1 gene mutation on sex chromosome X, all others are autosomal recessive diseases. The 22 pairs of numbered chromosomes in the human cell are known as autosomes, except chromosomes X and Y which are the 23rd pair and determine gender.

We inherit a set of 23 chromosomes from each parent, with one copy of each gene on the 22 chromosomes from each parent, along with an X from our mother and an X or Y from our father. Autosomal recessive diseases occur when both the copies of the same gene are missing or defective.

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How is spinal muscular atrophy diagnosed?

Diagnosis begins with a classification of SMA. Along with a clinical assessment of symptoms, diagnostic tests that can help confirm diagnosis include:

  • Genetic testing with blood sample, which is the most accurate method.
  • Blood test for an enzyme called creatine kinase (CK) which leaks out of muscles that break down. CK values are usually normal in SMA1, but are slightly elevated in SMA2 and SMA3 and can be confused with other muscle-wasting diseases.
  • Electromyogram, a test that uses low electric pulses to measure electrical activity in the muscles.
  • Nerve conduction study, which assesses the speed with which signals are transmitted through motor neurons.
  • Muscle biopsy, in which muscle tissue sample is analyzed under a microscope.

Can spinal muscular atrophy be treated?

While SMA can be treated to alleviate symptoms, slow down progression of the disease and prolong and improve quality of life, the disease is not curable. 

Treatment is highly effective in managing symptoms in SMA4 patients and most are mobile throughout their lives. Early diagnosis (before permanent motor neuron damage occurs) and appropriate treatment can improve outcomes for patients with SMA2 and SMA3. 

New gene therapies and disease-modifying medications targeting the SMN1 and SMN2 genes, which increase production of SMN protein and reduce motor neuron loss, have helped improve prognosis.

In May 2015, the U.S. Department of Health and Human Services (HHS) approved the addition of spinal muscular atrophy to the Recommended Uniform Screening Panel (RUSP) for newborns. This may help in early diagnosis and prompt treatment, which can be life-saving, especially with research of more effective medications underway.

What is the treatment for spinal muscular atrophy?

Treatment for spinal muscular atrophy depends on the severity of the disease and includes disease-modifying medications and treatment for symptoms and complications. Patients also have the option to enroll in clinical trials for new treatments.

Disease-modifying therapies

The FDA has approved three disease-modifying medications to treat SMA caused by a missing or mutated SMN1 gene:

  • Nusinersen sodium (Spinraza): Nusinersen is administered with an injection into the cerebrospinal fluid in the spinal canal. Nusinersen modifies the SMN2 gene to increase its production of functional SMN protein. Nusinersen is approved for use in children and adults.
  • Onasemnogene abeparvovec-xioi (Zolgensma): Zolgensma is a gene replacement therapy administered with intravenous infusion. A non-infectious virus delivers a fully functional SMN1 gene into the motor neurons, which increases production of SMN protein. Zolgensma is a one-time therapy approved for children below 2 years of age.
  • Risdiplam (Evrysdi): Risdiplam is an oral solution that modifies SMN2 gene to make it produce more functional SMN protein. Risdiplam is approved for children over 2 months of age and is a life-long treatment.

Symptom and complication therapies

Treatment to relieve symptoms and alleviate complications vary depending on the patient’s condition. Therapies may include:

  • Breathing support and devices to remove respiratory secretions (if the patient has respiratory muscle weakness)
  • Feeding tubes for weakness in the chewing and swallowing muscles
  • Physical and occupational therapies
  • Supportive aids such as back braces, leg braces, walkers or wheelchairs
  • Surgery to treat hip dislocations, fractures or scoliosis

What is the life expectancy of someone with spinal muscular atrophy?

Life expectancy depends on the severity of the disease:

  • Type 0: Babies with SMA type 0 have extremely weak respiratory muscles and many also have congenital heart defects. Type 0 babies rarely survive beyond 6 months.
  • Type 1: The majority of children with SMA type 1 do not survive beyond the age of 2 because of respiratory issues. New treatments, however, have helped prolong the life of children with SMA1 and enabled them to sit and even walk.
  • Type 2: Most children with SMA type 2 survive into adolescence or young adulthood. Current disease-modifying treatments help improve muscle function and quality of life in these children.
  • Type 3: With appropriate care and treatment, most patients with SMA type 3 have a normal life span. Treatment can improve motor function and slow down progression of the disease.
  • Type 4: Life expectancy is normal in people with SMA type 4 and most remain mobile and active throughout their lives. Treatment can slow down disease progression and prevent complications.

What Is a Cluster Seizure?

Cluster seizures are episodes of increased seizure activity in which two or more seizures occur in 24 hours. Multiple seizures occur one after the other typically with a recovery period between each seizure and are different from a person's usual seizure pattern.
Cluster seizures are episodes of increased seizure activity in which two or more seizures occur in 24 hours. Multiple seizures occur one after the other typically with a recovery period between each seizure and are different from a person’s usual seizure pattern.

Cluster seizures are episodes of increased seizure activity in which two or more seizures occur in 24 hours. Multiple seizures occur one after the other typically with a recovery period between each seizure and are different from a person’s usual seizure pattern.

Cluster seizures affect people with epilepsy regardless of their sex or age. They may occur rarely or frequently. They may occur in children and adults over the age of 60 years old who have new-onset seizures. If cluster seizures are left untreated, they may progress to status epilepticus, a life-threatening emergency. Status epilepticus is a serious condition in which a single seizure lasts more than five minutes or more than one seizure occurs within five minutes without allowing the person to recover from the first seizure.

Cluster seizures are also known by other terms, all of which describe the condition, characterized by multiple seizures, such as

  • Acute repetitive seizures 
  • Serial seizures 
  • Crescendo seizures 
  • Seizure flurries 
  • Recurrent seizures
  • Cyclical seizures
  • Seizure clusters

What causes cluster seizures?

The exact reason why cluster seizures occur is not known but they may be associated with a failure of inhibition of the epileptic discharge in the brain.

Some risk factors for cluster seizures include having:

  • Frontal lobe epilepsy 
  • Head injury or trauma 
  • Poor seizure control
  • Focal onset seizures
  • Generalized epilepsy
  • Rare seizures
  • History of central nervous system infection
  • Cortical dysplasia
  • Complex partial seizure
  • Earlier age of seizure onset
  • Refractory epilepsy: Failure of more than two seizure medications. A person gets seizures even after trying two or more seizure medications.
  • Intractability: Less than one year of seizure freedom

What triggers cluster seizures?

Certain conditions can trigger cluster seizures, including

In about 30 percent of people who get cluster seizures, there are no identifiable triggers that cause them.

What are the complications of cluster seizures?

Cluster seizures may happen without warning. Without the right treatment, cluster seizures might lead to serious problems such as 

  • Status epilepticus: This refers to longer seizures or a seizure lasting longer than five minutes. The risk of brain injury goes up if a seizure lasts more than 30 minutes and can become a life-threatening seizure emergency. 
  • Mental illness: A patient is likely to lose touch with reality (psychosis) after cluster seizures.
  • Death: People who have cluster seizures have higher death rates.
  • Drowning .
  • Car accidents.
  • Injuries such as scrapes, cuts or broken bones.
  • Pregnancy complications may arise.
  • Hospitalization.
  • Psychological problems.
  • There could be a disruption of school, work, family and social life.

As cluster seizures can cause great harm, it is important to manage them.

How are cluster seizures treated?

Cluster seizures can often be easily treated outside of a hospital. Early treatment may consist of the use of rescue medication that will prevent the need for hospital treatment. Rescue medication has to be given as soon as possible to stop or prevent cluster seizures. 

Benzodiazepines are used as rescue treatment to help avert cluster seizures. They stop seizures by changing the levels of a chemical messenger in the brain, called gamma aminobutyric acid (GABA). Side effects of benzodiazepines may include drowsiness and dizziness.

Rescue medication is prescribed along with the patient’s anti-epileptic drug (AED) regimen. AEDs are to be taken every day as prescribed by the doctor to manage seizures. Rescue medication is administered only when cluster seizures occur.

However, if rescue treatments don’t work and seizures continue to occur or complications occur, emergency medical treatment and hospitalization may be required.

Route of administration of rescue medication

Rescue medication can be administered in several ways and necessitates training on how and when to use them to avoid injury or harm to a patient.

  • Nasal: Rescue medication is sprayed into the nose to stop cluster seizures. They work quickly and are easy to use.
  • Rectal: A gel form of rescue medication is injected into the rectum using a syringe without a needle. This type may be safer, especially for children, during a seizure.
  • Cheek: Also called the buccal method. For this method, the rescue medication is put inside the cheek. It is not suitable for people who produce a lot of saliva during a seizure.
  • Oral: The medications are taken by mouth as a pill, liquid or wafer. 
  • Intravenous (IV) or shot: The doctor may give rescue medication through an IV or inject it into a muscle to help stop cluster seizures immediately. 

What Is the Role of the Hypothalamus?

What is the hypothalamus?

Hypothalamus
The hypothalamus is a part of the midbrain. An important function of the hypothalamus is to link the nervous system to the endocrine (hormonal) system through the pituitary gland. The hypothalamus is considered the regulator of all hormonal functions in the body.

The hypothalamus is a part of the midbrain. It is named that because of its proximity to the “thalamus,” the part of the brain responsible for all sensations the body receives. An important function of the hypothalamus is to link the nervous system to the endocrine (hormonal) system through the pituitary gland. The hypothalamus is considered the regulator of all hormonal functions in the body. It produces various hormones (substances) that control other glands of the body. Hormones produced by the hypothalamus include

  • Anti-diuretic hormone (vasopressin): It regulates water levels and influences blood pressure.
  • Corticotropin-releasing hormone (CRH): It acts on the pituitary gland releasing hormones in response to stress.
  • Oxytocin: It influences sexual and social behavior.
  • Gonadotropin-releasing hormone (GnRH): It stimulates the pituitary to release hormones that influence the development of reproductive system structures.
  • Somatostatin: It inhibits the release of thyroid-stimulating hormone (TSH) and growth hormone (GH).
  • GH-releasing hormone: It stimulates the release of GH by the pituitary.
  • Thyrotropin-releasing hormone: It stimulates the pituitary to release TSH. TSH regulates metabolism, growth, heart rate and body temperature.

The hypothalamus may be divided into three regions. Each region is responsible for various functions.

Other functions of the anterior region of the hypothalamus include

  • Temperature regulation
  • Release of hormones such as oxytocin, anti-diuretic hormone and gonadotropin-releasing hormone
  • Control of sleep–wake cycles

Functions of the middle or tubular region of the hypothalamus include

  • Control of blood pressure, heart rate and food uptake habits
  • Release of GH-releasing hormone

Functions of the posterior region of the hypothalamus include

  • It is involved in memory, learning, arousal, sleep, pupil dilation, shivering and feeding
  • It helps release anti-diuretic hormone

Other functions

  • The hypothalamus connects with the brainstem, the part of the brain that relays information from the peripheral nerves and spinal cord to the upper parts of the brain.
  • The hypothalamus also connects to the peripheral nervous system. These connections enable the hypothalamus to influence many involuntary functions (heart rate, pupil constriction and dilation, etc.).
  • In addition, the hypothalamus has connections with other limbic system emotion controlling part of the brain, including the amygdala, hippocampus, thalamus and olfactory cortex. These connections enable the hypothalamus to influence emotional responses to sensory input.

Summary

The key function of the hypothalamus is to produce hormones that keep the body in a stable condition called homeostasis. It does this by coordinating messages and signals (hormones) received from other glands with those from the brain (nerve impulses). Together, the hormones made by the hypothalamus directly or indirectly regulate

  • Body temperature
  • Sleep and alertness
  • Appetite and body weight
  • Thirst
  • Circadian (daily) rhythms
  • Blood pressure and heart rate
  • Sex drive
  • Learning and memory
  • Mood
  • Sickness behaviors (fatigue, fever and loss of appetite)

Besides these, the hypothalamus secretes hormones that are involved in many other functions such as appetite and thirst control. Optimum levels of hormones in the bloodstream are necessary for the body to function properly. Low or high levels of a particular hormone could lead to hypothalamus disorders. These include

Disorders of the hypothalamus include

Hypothalamic disease is most commonly caused by brain injury, surgery, malnutrition-related to eating disorders (anorexia and bulimia), inflammation and tumors.

Can You Heal a Damaged Brain?

Can you heal a damaged brain?

Brain damage may be caused by ruptured or blocked blood vessels or a lack of oxygen and nutrient delivery to a part of the brain. Brain damage cannot be healed, but treatments may help prevent further damage and encourage neuroplasticity. Brain damage may be caused by ruptured or blocked blood vessels or a lack of oxygen and nutrient delivery to a part of the brain. Brain damage cannot be healed, but treatments may help prevent further damage and encourage neuroplasticity.

No, you cannot heal a damaged brain. Medical treatments can just help to stop further damage and limit the functional loss from the damage. The healing process of the brain is not the same as the skin. When the skin gets damaged, such as due to minor skin wounds, it usually heals wells without leaving scars. Major wounds can heal with scarring. Skin healing is completed by replacing the damaged/lost cells with new ones. In the brain, the damaged cells are nerve cells (brain cells) known as neurons and neurons cannot regenerate. The damaged area gets necrosed (tissue death) and it is never  the same as it was before.

When the brain gets injured, you are often left with disabilities that persist for the rest of your life. Rehabilitation can help in functional recovery, but structural abnormality is hard to correct with available treatments.

What causes brain damage?

Brain damage can be caused either by a traumatic brain injury (TBI) or acquired brain injury (ABI). Brain injuries can cause rupture or blockage of the blood vessels. Depending on the impact of the injury, oxygen and nutrient supply get disrupted to a part or all of the brain. Nutrient and oxygen deprivation of the nerve cells for a prolonged period may lead to brain damage.

TBI refers to brain injuries caused by an external force. They usually result from head injuries. Examples include

  • Violent blow or jolt to the head
  • Objects, such as a bullet or shattered piece of skull, that penetrate the brain

ABI refers to the brain injury that is “acquired” during your life. This means the injury was not congenital (present since birth) or due to genetic causes. An acquired brain injury or ABI includes injuries due to an external force (TBI). They, however, also include injuries that do not involve an external force, such as a tumor, stroke or a reduced supply of oxygen to the brain.

How is a damaged brain treated?

A traumatic brain injury needs emergency care that aims at

  • Making sure there is enough oxygen: Oxygen will be delivered through a face mask connected to an oxygen cylinder. You may be put on artificial respiration with the help of ventilators.
  • An adequate blood supply: A blood transfusion may be done.
  • Maintaining blood pressure with fluids and medications.
  • Preventing any further injury to the head or neck.

Doctors will focus on minimizing further loss due to inflammation, bleeding or reduced oxygen supply to the brain.

Hyperbaric oxygen therapy (HBOT)

The doctor may prescribe hyperbaric oxygen therapy (HBOT) to improve the lost cognitive functions/skills, such as reading or cooking, after the brain damage. Currently, HBOT is one of the most important therapies for TBI. It involves putting you in an oxygen-rich chamber that increases the blood oxygen levels ten times the normal level.

Noninvasive brain stimulation

Noninvasive brain stimulation without the introduction of any instruments through the skin. It is a painless procedure for the treatment of TBI. Studies have shown that it could improve depression and cognitive function after TBI.

There is something known as a “stem cell” that seems to be a promising option to regenerate damaged neurons in the brain. Stem cells are a special type of cells that can be trained to develop into any kind of cell, such as a neuron. However, research is ongoing to determine the efficacy and safety of the therapy.

If there is no healing, how does the brain repair itself?

The brain can be repaired in the following ways

Neuroplasticity

After the damage of brain cells or neurons in a certain area of the brain, the surviving brain cells adapt to compensate for the lost cells. This ability of the brain is known as neuroplasticity, which helps the brain to repair itself. Though damage in the affected areas seems to be irreparable with current therapies, the brain can train its surviving cells to carry its functions.

Neuroplasticity helps recovery from brain damage, but rehabilitation therapy is needed to enhance this neuroplasticity. The quicker the rehabilitation process, the quicker is the recovery. However, some may never recover at all.

Rehabilitation

Rehabilitation is a special type of therapy that helps to improve the ability to perform daily activities, such as walking, climbing stairs and cooking.

The type and the duration of rehabilitation depend on how severe the injury is and the part of the brain that is injured.

Rehabilitation therapy includes

  • Occupational therapy: To learn, relearn or improve skills to perform everyday activities.
  • Physical therapy: To help with mobility and relearning movement patterns, balance and walking.
  • Speech and language therapy: To help improve communication skills and use assistive communication devices (if necessary).
  • Psychotherapy: To help learn coping strategies and improve physical and mental wellbeing.

Ataxia Definition, Symptoms, Treatment & Types

What is ataxia?

Common ataxia symptoms and signs involve a lack of coordination and include unsteady gait and difficulty walking.

Common ataxia symptoms and signs involve a lack of coordination and include unsteady gait and difficulty walking.

Ataxia describes the lack of muscle coordination when a voluntary movement is attempted. It may affect any motion that requires muscles to work together to perform a function, from walking to picking up an object to swallowing.

Ataxia is a sign of an underlying medical problem and is not a disease.

What are the types of ataxia?

The cerebellum is the region of the brain that is responsible for coordinating motion in the body. When the brain commands part of the body to move, electrical signals are transmitted through the spinal cord into peripheral nerves that then stimulate a muscle to contract, initiating movement.

That part of the body also has sensory nerves that collect information from the environment about position and proprioception, where the body is in time and space. These signals return via the same peripheral nerves but through a different pathway in the spinal cord.

The cerebellum takes this information, as well as input from vision from the eyes and balance from the vestibular system of the inner ear, to help smooth out purposeful movement. Failure of any one or more of these pathway components can lead to ataxia.

Cerebellar ataxia is caused by abnormalities and damage, either temporary or permanent, to the cerebellum. Sensory ataxia occurs when the dorsal columns of the spinal cord fail to function normally. They are responsible for carrying proprioception information from the body to the brain.

Damage to parts of the brain that have to interpret the information may also cause sensory ataxia. Vestibular ataxia describes loss of balance because the vestibular canals fail to function properly.

What are the causes of ataxia?

Ataxia maybe inherited and caused by a genetic defect or it may be acquired due to structural damage to the cerebellum or spinal cord.

Genetic ataxia may be sex linked, meaning that the DNA and gene problem is located on an X or Y chromosome (the sex chromosomes) or it may be autosomal linked, where the abnormality is located on one of the other 23 pairs of chromosomes.

Spinocerebellar and episodic ataxias are examples of autosomal dominant ataxias. Friedreich ataxia and ataxia telangiectasia are autosomal recessive.

Structural damage to the brain may be caused by any lesion that decreases blood supply to or invades into brain tissue, cerebellum included. This may include trauma and bleeding, stroke or tumor, and multiple sclerosis.

Poisonings, chemical, electrolyte, hormonal abnormalities, and malnutrition are also potential causes that tend to globally affect brain and body function and may or may not be reversible. Alcohol is perhaps the most common poisoning to cause ataxia. Other causes include a variety of prescription medications including lithium and those medications used to treat seizure disorders. Recreational drugs like PCP, ketamine, and marijuana may cause ataxia. Mercury poisoning may cause ataxia. Vitamin B12 deficiency and hypothyroidism are other potential causes.

Wilson's disease is autosomal recessive affecting the body's ability to metabolize copper and may lead to ataxia. It is an example of why classifying ataxia is sometimes difficult, since it is both a genetic and structural cause.

There are a group of patients with ataxia where the cause is not found and this ataxia is classified as idiopathic ataxia.

Celiac disease is an immune-mediated illness and is often thought only as a digestive disorder where the body cannot digest gluten. However, it may affect many other organs in the body. Gluten-associated ataxia may be one of the causes of sporadic idiopathic ataxia.

Ataxia Telangiectasia

A progressive neurodegenerative genetic disease characterized by cerebellar ataxia (incoordination and lack of balance), ocular telangiectasia (“red eyes” due to widening of small blood vessels in the conjunctiva), immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. Ataxia-telangiectasia (A-T) cells are abnormally sensitive to killing by ionizing radiation.

Click here to see a picture of ataxia telangiectasia »

What are the ataxia symptoms and signs?

The symptoms of ataxia will depend upon what part of the brain or body is affected. Common symptoms all involve lack of coordination:

  • Difficulty walking with an unsteady gait, which is often wide-based and staggering. This can lead to stumbling and falling.
  • Speech may be slurred and slow with an unusual rhythm to the words.
  • Swallowing may be difficult and the patient may choke, especially when drinking liquids.
  • Difficulty using the hands and fingers to button shirts, or pick up a fork or spoon to eat. Writing, keyboarding, sewing, and playing an instrument can be affected.
  • Nystagmus is the term used to describe rapid involuntary eye movements where the eyes jerk back and forth. This can cause blurred vision and difficulty reading or moving the eyes from one word to the next.
  • Fatigue is a common complaint, likely because the muscles of the body have to work harder to overcome the lack of coordination to perform their daily activities.

How do doctors diagnose ataxia?

History and physical examination are necessary for the clinical diagnosis of the disease process that results in ataxia. Questions may be asked about exposures to chemicals and other toxins. History may include delving into the family history asking about relatives who might have neurologic problems. The neurologic exam will be focused upon looking for muscle weakness and changes in sensation.

Laboratory tests (blood, urine, lumbar puncture) may look for electrolyte and chemical abnormalities and may screen for toxins and other poisons. CT scan or MRI of the brain and spinal cord may be required. Nerve conduction studies may be appropriate if there is concern for peripheral neuropathy (nerves outside the brain and spinal cord). If there is a potential for a familial or genetic cause, genetic testing may be appropriate.

There are many potential causes for ataxia and it may take time for a definitive diagnosis to be made. The primary health care professional may ask for consultation from an internal medicine specialist or neurologist to help identify the definitive diagnosis or underlying cause of the ataxia.

What is the treatment for ataxia?

The treatment of ataxia depends upon the underlying cause. Should the ataxia be found to be irreversible, physical and occupational therapy are the cornerstones of care, focusing on safety, mobility, maximizing function, and improving quality of life.

What is the prognosis for ataxia?

Ataxia is the sign of an underlying disease or illness and the prognosis depends upon the response to treatment of that underlying cause. For example, some causes of ataxia may be reversible (electrolyte imbalance, exposure to certain chemicals) so the prognosis is good while others (genetic, irreversible alcohol damage) may have a fair to poor prognosis.

Is it possible to prevent ataxia?

Since ataxia is the sign of an underlying disease, it may not necessarily be preventable. However, avoiding external causes of ataxia (environmental chemicals and toxins) may prevent some individuals from developing ataxia. Currently, genetic causes are not preventable.

Aneurysm vs. Stroke: Which Is Worse?

Aneurysm vs. stroke: which is worse?

Strokes and aneurysms are serious brain conditions that may result in death or permanent damage.Strokes and aneurysms are serious brain conditions that may result in death or permanent damage.

Aneurysms and strokes are brain conditions that require immediate medical attention. When your brain has become damaged and isn't receiving blood and oxygen in the right proportions, it begins to affect your thoughts, speech, and ability to stay conscious. Both of these related conditions could cause permanent damage or even death.

What is aneurysm vs. stroke?

It's important to understand the differences between the symptoms and warning signs of these two serious conditions, along with what steps you can take to prevent further damage and regain your health.

What is an aneurysm?

An aneurysm is an abnormality in your arteries in which the artery wall becomes too thin and a bulge forms. While aneurysms can happen in other parts of the body, they are most common and most deadly in the brain. A burst brain aneurysm is a medical emergency because it causes immediate harm, with 50% of all ruptures being fatal.

What is a stroke?

A Stroke is an abnormal event that happens in the arteries of your brain. In most cases, a blood clot or blockage stops the flow of blood in your brain. This is known as an ischemic stroke and is the most common type of stroke — about 87% of all strokes are ischemic. 

The other type — hemorrhagic stroke — happens when a blood vessel bursts, which damages the brain and blocks blood flow to other areas. Strokes are also the fifth-leading cause of death in the United States, with about 10% to 20% considered fatal. 

What are symptoms and signs of aneurysm vs. stroke?

While aneurysms and strokes are related, they can have different symptoms. Not all of these symptoms happen every time, and they can show up at different times. Some symptoms might come on suddenly, and some might present early warnings. 

Symptoms of an aneurysm

You rarely have symptoms for an aneurysm that hasn't burst. But if you do, you might experience:

  • Dilated pupil in one eye
  • Numbness on one side of your face
  • Changes in your vision
  • Pain behind and above one eye

For a burst aneurysm, you might experience:

Symptoms of a stroke

Symptoms for the two types of strike are quite similar. If you’re experiencing either, it can be difficult to tell the difference, but either case is equally serious. 

For an ischemic stroke, you might experience: 

For a hemorrhagic stroke, you might experience:

Any of these symptoms can indicate a life-threatening emergency. You should call 9-1-1 immediately.

What are causes of aneurysm vs. stroke?

There are several causes and risk factors for aneurysm or stroke. While some risk factors are outside of your control, some are within your control. Reducing your risks can help you prevent an aneurysm or a stroke from happening. 

Causes of an aneurysm

Generally, the cause of an aneurysm is any condition or situation that can weaken your blood vessels and let a bulge form. The leading risk factors include:

Causes of a stroke

Blood clots are the leading cause of ischemic stroke, and the leading risk factors include:

Burst brain aneurysms are the leading cause of hemorrhagic stroke. Risk factors for stroke include:

How to diagnose aneurysm vs. stroke

Since burst aneurysms and strokes are medical emergencies, you will likely see a doctor in the emergency department of a hospital. Your doctor will begin with a physical and neurological exam to assess your symptoms. They will order one or more imaging scans to identify and locate a burst blood vessel or blockage.

For a burst aneurysm, you may undergo a computed tomography (CT) scan, computed tomography angiogram (CTA), magnetic resonance imaging (MRI), magnetic resonance angiogram (MRA), or a diagnostic cerebral angiogram. 

For a stroke, your attending doctor may order an electroencephalogram, CTA scan, MRA, diagnostic cerebral angiogram, carotid ultrasound, trans-cranial Doppler ultrasound, or an echocardiogram. 

You may also have several blood tests to check for infection, cholesterol and blood sugar levels, or blood clotting abilities. Your blood may be tested for thyroid or electrolyte irregularities as well.

Treatments of aneurysm vs. stroke

Your health depends on quick treatment of these conditions. Once your doctor sees the test results, they will determine the best treatment for you. Treatment for aneurysms is different from treatment for strokes.

For aneurysms, your doctor may recommend surgical clipping, also known as microvascular clipping. This is where neurosurgeons place a small clip on the neck of the aneurysm to stop the bleeding. Two less-invasive procedures are coil embolization, in which doctors place tiny metal coils inside the aneurysm to block blood flow, or flow diversion, in which doctors place a mesh-like stent in the artery to divert blood away from the aneurysm.

Stroke treatment depends on the type. For ischemic strokes, your doctor will give you clot-busting medication such as tissue plasminogen activator, known as tPA, or a blood-thinning medication. They may also use a stent retriever inserted into your artery to remove the clot. To prevent further strokes, your doctor may perform a carotid endarterectomy to remove plaque buildup or an angioplasty to insert a stent into your artery.

For hemorrhagic strokes, your treatment is similar to that of a burst aneurysm. You may receive surgical clipping, coil embolization, or flow diversion to block blood flow to the burst artery. Your doctor might perform stereotactic radiosurgery to repair an artery malformation or surgery to remove the blood vessel itself. In addition, you may receive medications to lower your blood pressure and prevent seizures.

 

13 Seizures vs. Seizure Disorders Symptoms: What Are the Differences?

What is a seizure?

A seizure is single occurrence of uncontrolled electrical activity in the brain, usually for short time span. A seizure disorder is a medical condition characterized by episodes of uncontrolled electrical activity in the brain, thus producing symptoms that include two or more seizures.A seizure is single occurrence of uncontrolled electrical activity in the brain, usually for short time span. A seizure disorder is a medical condition characterized by episodes of uncontrolled electrical activity in the brain, thus producing symptoms that include two or more seizures.

  • A seizure and a seizure disorder are not the same.
  • A seizure is single occurrence of uncontrolled electrical activity in the brain, usually for short time span. It can cause numerous signs and symptoms like convulsions, thought disturbances, loss of consciousness, and/or other symptoms.
  • Usually, doctors consider seizures a symptom of a disease. 
  • Epilepsy is a chronic disorder of recurrent unprovoked seizures, and is one type of seizure disorder.
  • In epilepsy, a convulsion is a sudden, violent irregular movement of a limb of the body caused by involuntary contraction of muscles usually associated with epilepsy and/or toxic agents. 

What is a seizure disorder?

  • A seizure disorder is a medical condition (one of about 40) characterized by episodes of uncontrolled electrical activity in the brain, thus producing symptoms that include two or more seizures.
  • Doctors separate the disorders from each other by their potential causes and their own set of symptoms due to the affected area in the brain.

Epilepsy Symptoms and Signs

Epilepsy is a brain disorder that belongs to a group of over 40 seizure disorders. It's not contagious and it's not caused by a
mental illness or disability. Seizures are a symptom of epilepsy. When a person
with epilepsy has a seizure, they have symptoms like convulsions; muscle spasms;
strange sensations, emotions, or behavior; and loss of consciousness.

REFERENCE: CDC. “Epilepsy Basics.” Updated: Apr 13, 2017.

Click for more about seizures »

What are the types and symptoms of seizures?

1. Generalized seizures result in loss of consciousness.

  • Motor: Grand mal seizures (also called tonic-clonic with muscle jerks or spasms) and have signs and symptoms of stiffness of muscles (tonic), relaxed muscles (atonic), muscles that cause sporadic short jerking of body or limbs (myoclonic), and repetitive shaking or jerking of the body (clonic).
  • Non-motor (absence): Symptoms include staring into space, sometimes with eye blinking.

2. Partial or focal seizures result in either no loss of consciousness or confusion for a few minutes.

  • Aware: Twitching and/or sensation change
  • Impaired awareness: No loss of consciousness, but you become confused for a few minutes

3. Unknown onset seizure

  • Unclassified: It may share questionable features of generalized and/or focal seizures.
  • Motor: Involving musculature
  • Non-motor: Involving awareness

What are the types of seizure disorders? Are the signs and symptoms the same?

There are about 40 different types of named seizure disorders. However, all of the seizure disorders fit into one of the three seizure types listed previously. They differ from each other by some changes in the symptoms they produce. Although it is beyond the scope of this article to describe all types of seizure disorders, an example of how they are given names may give insight as to how their symptoms differ. For example:

  • Simple partial seizure disorders differ from person to person depending upon the part of the brain affected.
  • Benign Rolandic epilepsy in children causes tongue twitching, and may interfere with speech and cause drooling.
  • Catamenial epilepsy refers to seizures that occur in relation to the menstrual cycle.
  • Atonic seizures cause symptoms like falling usually not associated with loss of consciousness.
  • Absence seizures cause a short loss of consciousness with little or no symptoms.
  • Clonic seizures cause rhythmic jerks that involve both sides of the body simultaneously.
  • Tonic seizures cause a stiffening of the muscles
  • Febrile seizures usually occur in children between 6 months and 5 years of age. They are common in toddlers. 

Other symptoms of seizure disorders may include:

  1. Convulsions
  2. Eye blinking
  3. The lips may slightly jerk and move.
  4. Sudden loss of muscle tone
  5. The head drops suddenly
  6. The person cries out
  7. The person falls to the ground
  8. Changes in tastes or smells
  9. Biting the tongue
  10. The person cannot answer questions.
  11. Thought disturbances
  12. Eye rolling
  13. The person involuntarily urinates or has a bowel movement.

With these few examples, you can understand the complexity of seizure disorders and their symptoms.

Will I have to limit my activities after having a seizure? Can I drive?

Until your seizures are controlled, you should not do activities where loss of consciousness could be life-threatening. For example, avoid

  • driving,
  • swimming,
  • climbing,
  • operating power tools, or
  • taking a bath in a bathtub until about six months after becoming seizure free.

Some states require you to be free of seizures up to one year before you can drive.

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How long do seizures last?

  • Although most seizures stop spontaneously after several minutes (average is about 1- 2 minutes), there are conditions that may cause brain damage and/or life-threatening situations due to seizures.
  • Status epilepticus (seizures lasting 5 or more minutes or if there is more than one seizure within five minutes) is a medical emergency; call 911 as the patient needs emergency treatment, usually with an anticonvulsant such as lorazepam (Ativan), given intravenously.

How are seizures and seizure disorders treated and managed?

  • If you know the cause of your seizures or seizure disorder (such as alcohol intake or cocaine use, low blood sugar, and encephalitis), you should stop what's triggering them and/or treat any underlying medical conditions.
  • For example, stop drinking alcohol and/or abusing legal or illegal drugs; and manage your blood sugar if you have diabetes.
  • Take your medication as your doctor or other health care professional has prescribed.
  • Seizures that do not respond to treatment may cause you and your medical team (primary care doctor, neurologist, and neurosurgeon) to consider surgery or nerve stimulation treatment.




QUESTION

If you have had a seizure, it means you have epilepsy.
See Answer

Can seizures or seizures disorders be prevented?

  • Depending upon the cause of the seizure and/or seizure disorder, the chances of reducing or preventing some of them is possible. You can do this by avoiding any known potential causes or triggers of your seizures, like drinking excessive alcohol or using cocaine and other illegal drugs.
  • You should take your medicine as your doctor has prescribed to reduce the chance of developing another seizure.
  • For some patients, brain surgery may eliminate seizures by removing the epileptic focus the brain tissue.
  • Vagus nerve stimulation is another potential way to prevent some seizures.
  • However, none of these treatments provides 100% prevention. In addition, it is difficult to prevent seizures caused by birth defects, injuries, strokes, or tumors.

What To Do After a Concussion: Head Injury Treatment

concussion treatment
After seeking medical treatment for a concussion, you should continue to rest, stay hydrated, eat at regular times and avoid any activities that may result in another head injury.

A concussion is a mild traumatic brain injury caused by a blow to the head or violent shaking of the head and body. While most head injuries are common and do not result in permanent brain damage, it’s best if you consult a doctor if you experience a concussion.

After seeing your doctor, follow the tips below to help yourself quickly recover from your concussion.

Immediate treatment

It is advisable to be accompanied by another person for 24 hours after the injury and not drive or operate any machinery. Symptoms might still be developing, and you could lose consciousness or even have a delayed response during this period.

If you had a concussion while playing sports, you must not continue playing until you have been assessed by a specialist or an athletic coach. Sometimes, your doctor may order a computed tomography (CT) scan to be sure that there is no fracture in the skull or swelling of the brain.

Days 1 and 2 post-injury

The following steps can ensure safe recovery in the first two days after a concussion.

  • Keep away from caffeine.
  • Take rest no less than 8 to 10 hours in a 24-hour time frame.
  • Have somebody keep an eye on you to guarantee your side effects are not worsening.
  • Keep away from screen time on a PC, TV, smartphone or tablet.
  • Messaging or playing computer games require mental focus that can worsen your side effects as can the screen light and movement.
  • Enjoy a break from work, school, PC use and reading.
  • Keep away from bright light and loud noises.
  • Take a painkiller such as Tylenol (acetaminophen).
  • Keep away from sports or extreme exercise.
  • Stay hydrated.
  • Eat light and stick to a sound eating routine.
  • Keep away from alcohol because this might cover or worsen your symptoms.

One week post-injury

After about seven days post your injury, you can gradually continue with everyday activities if your symptoms seem to improve.

  • Gradually get active: On the off chance that your symptoms don't return or worsen, you can continue to add more intense activities. You can almost certainly get back to work or school within seven days of your injury.
  • Take breaks and alter what you do: If your symptoms return or worsen, attempt an alternate action, enjoy a break or try a milder adaptation of the action (i.e. walking instead of running, or reading an actual book instead of using a tablet).
  • Rest, drink water and eat: Continue getting a lot of rest, remaining hydrated, maintaining a solid eating habit and staying away from any activity where you may reinjure your head.
  • Be patient: Your injury must heal before you take part in sports or actual work where you could fall or be hit in the head.
  • Follow-up: In case you're uncertain if an activity is safe or your side effects are not improving, call your primary care physician (PCP).

Long-term treatment

Most of the time, all side effects of a concussion are gone within seven days to a month of the injury. In cases where symptoms are gone and your PCP has examined you, you may continue your everyday activities besides sports and exercises. Ensure that the concussion is healed and avoid risking a second head injury.

Symptoms of a concussion

Symptoms might show up immediately or in the hours and days following the injury, and can range from mild to severe, including:

Cerebellar Disorders: Common Signs & Symptoms

cerebellar disorders symptoms
Cerebellar disorders may result in symptoms such as incoordination, clumsiness and tremors in limbs, posture and gait.

Cerebellar diseases cause incoordination, clumsiness and tremors because the cerebellum is responsible for smoothing out and refining voluntary movements. The cerebellum is the region of the brain responsible for controlling stance, gait and balance, as well as the coordination of complex and goal-directed movements.

The acute onset of cerebellar symptoms is considered a medical emergency and requires immediate medical attention. When the cerebellum is damaged, the nerve signals become disjointed and fail to flow smoothly, making usual, daily tasks difficult.

Common signs and symptoms of cerebellar disorders

Head

  • Nystagmus
    • A vision condition in which the eyes make repetitive, uncontrolled movements.
    • These movements typically result in reduced vision and depth perception, often affecting balance and coordination.
    • These involuntary eye movements can occur from side to side, up and down or in a circular pattern.
  • Titubation
    • Resting tremor of the head (rotatory, rocking or bobbing movement).
  • Staccato speech
    • Patients may have explosive, monosyllabic speech.
  • Skew deviation of the eyes
    • Vertical misalignment of the eyes.
    • One points up and the other points down, resulting in diplopia of vertical gaze.
    • The head ends up being tilted toward the side of the lower eye.
  • Ocular dysmetria
    • A constant under- or over-shooting of the eyes when attempting to focus the gaze on something.
  • Others
    • In some cases of cerebellar disorders, patients may have head deviation and or inaccurate finger–nose or finger–finger coordination.

Upper limb

  • Tremor
    • Coarse, rapid, side-to-side oscillations on the affected side.
  • Drift
    • When outstretched, the arm will drift aimlessly.
    • When the arm’s position is changed with a sharp tap, the arm position may overcorrect and won’t be able to achieve its original position.
  • Dysdiadochokinesis
    • The patient will be unable to perform rapid alternating movements, such as repeated pronation-supination.

Trunk

  • Truncal ataxia
    • The patient will not be able to sit up straight with their eyes closed and may even fall over.
    • A person will be unable to sit on the bed without steadying themselves.

Lower limb

  • Gait disturbance
    • The classical sign of a cerebellar disorder is a wide-based stance at rest.
    • The person will also walk with their legs far apart to balance themselves.
  • Tandem gait
    • The cerebellar patient may not be able to walk heel-to-toe without losing balance.
    • In some cases, patients may not be able to smoothly run their heel along their shin (performed under heel-shin test).
  • Stagger
    • The cerebellar patient may stagger like a drunk person to the side of the lesion.

The main clinical features of cerebellar disorders include incoordination, imbalance, tremors and troubles with eye movements.

What are the two distinguishable cerebellar syndromes?

There are two distinguishable cerebellar syndromes:

  1. Midline cerebellar syndromes
    • These syndromes are characterized by an imbalance
    • Patients are unsteady and are unable to stand and maintain balance with their eyes open or closed
    • Severe midline disturbance causes truncal ataxia (dyscoordination)
    • Some persons have bobbing motions of the head or trunk (titubation)
    • Also often affect eye movements, and there may be nystagmus, ocular dysmetria and poor pursuit
  2. Hemispheric cerebellar syndromes
    • They are characterized by incoordination of the limbs.
    • There may be the decomposition of movement, dysmetria and rebound.
    • Dysdiadochokinesis (the irregular performance with rapid alternating movements) is often seen in this syndrome.
    • Tremors may be present when attempting to touch an object (intention tremors).
    • A kinetic tremor may be present (tremor prominent when the digit is in motion).
    • The finger-to-nose and heel-to-knee tests are classic tests of hemispheric cerebellar dysfunction.
    • While reflexes may be depressed initially with hemispheric cerebellar syndromes, this cannot be counted on.
    • Speech may be dysarthric, scanning or have an irregular emphasis on syllables.

There is no single specific treatment for cerebellar disorders. Instead, treatment is used to improve or relieve specific symptoms, and the goal is to improve the quality of life for the patients. Treatment often includes both pharmacological and nonpharmacological interventions. Early intervention with physical and occupational therapy, as well as neuropsychology for associated learning disorders, are required to ensure that patients with cerebellar disorders reach their potential.

What is cerebellar degeneration?

Cerebellar degeneration is a process in which neurons (nerve cells) in the cerebellum (the area of the brain that controls coordination and balance) deteriorate and die. Causes of the syndromes may be classified as either:

  • Hereditary
    • (Friedreich’s ataxia, cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration)
  • Acquired

Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system, including the spinal cord, cerebral cortex and brainstem. Cerebellar degeneration may be the result of changes that alter the normal production of specific proteins that are necessary for the survival of neurons.

The signs and symptoms of cerebellar degeneration are:

  • Wide-based, unsteady, lurching walk, which is often accompanied by a back-and-forth tremor in the trunk of the body
  • Slow, unsteady and jerky movement of the arms or legs
  • Slowed or slurred speech
  • Nystagmus

There is no cure for hereditary forms of cerebellar degeneration. Treatment is usually supportive and is based on the person's symptoms. For example, drugs may be prescribed to ease gait abnormalities, while physical therapy can strengthen muscles. Other disorders that may contribute to cerebellar degeneration can use treatment to ease symptoms.

Neuromyelitis Optica (Devic’s Syndrome): Causes & Symptoms

Neuromyelitis optica facts*

Eye AnatomyNMO leads to loss of myelin, which is a fatty substance that surrounds nerve fibers and helps nerve signals move from cell to cell.

*Neuromyelitis Optica facts medical author: Charles Patrick Davis, MD, PhD

  • Neuromyelitis Optica (NMO) is an uncommon disease of the central nervous system (CNS) that affects the optic nerves and spinal ord due to myelin loss.
  • Symptoms include
  • Neuromyelitis Optica is diagnosed mainly from the patient's history and physical exam. Recently, detection of an antibody termed NMO – IgG can help distinguish between neuromyelitis optica and multiple sclerosis.
  • Treatment of neuromyelitis optica usually occurs with methylprednisone and an immunosuppressive drug (azathioprine). Plasmapheresis (plasma exchange) has also been used but there is no cure for this disease.
  • Unfortunately, neuromyelitis optica patients have an unpredictable and relapsing course of the disease. Damage and disability are slowly cumulative due to recurrent attacks that damage new areas of myelin. Most individuals are impaired from myelitis and also have reading difficulties.

  • The National Institute of Neurological Disorders and Stroke (NINDS) is conducting research aimed at treating, preventing, and eventually curing this disease.

What is neuromyelitis optica?

Neuromyelitis optica (NMO) is an uncommon disease syndrome of the central nervous system (CNS) that affects the optic nerves and spinal cord.

What are the symptoms of neuromyelitis optica?

Individuals with NMO develop optic neuritis, which causes pain in the eye and vision loss, and transverse myelitis, which causes weakness, numbness, and sometimes paralysis of the arms and legs, along with sensory disturbances and loss of bladder and bowel control. NMO leads to loss of myelin, which is a fatty substance that surrounds nerve fibers and helps nerve signals move from cell to cell. The syndrome can also damage nerve fibers and leave areas of broken-down tissue. In the disease process of NMO, for reasons that aren’t yet clear, immune system cells and antibodies attack and destroy myelin cells in the optic nerves and the spinal cord.

How is neuromyelitis optica diagnosed?

Historically, NMO was diagnosed in patients who experienced a rapid onset of blindness in one or both eyes, followed within days or weeks by varying degrees of paralysis in the arms and legs. In most cases, however, the interval between optic neuritis and transverse myelitis is significantly longer, sometimes as long as several years. After the initial attack, NMO follows an unpredictable course. Most individuals with the syndrome experience clusters of attacks months or years apart, followed by partial recovery during periods of remission. This relapsing form of NMO primarily affects women. The female to male ratio is greater than 4:1. Another form of NMO, in which an individual only has a single, severe attack extending over a month or two, is most likely a distinct disease that affects men and women with equal frequency. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.

In the past, NMO was considered to be a severe variant of multiple sclerosis (MS) because both can cause attacks of optic neuritis and myelitis. Recent discoveries, however, suggest it is a separate disease. NMO is different from MS in the severity of its attacks and its tendency to solely strike the optic nerves and spinal cord at the beginning of the disease. Symptoms outside of the optic nerves and spinal cord are rare, although certain symptoms, including uncontrollable vomiting and hiccups, are now recognized as relatively specific symptoms of NMO that are due to brainstem involvement.

The recent discovery of an antibody in the blood of individuals with NMO gives doctors a reliable biomarker to distinguish NMO from MS. The antibody, known as NMO-IgG, seems to be present in about 70 percent of those with NMO and is not found in people with MS or other similar conditions.

What is the treatment for neuromyelitis optica?

There is no cure for NMO, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses. Doctors usually treat an initial attack of NMO with a combination of a corticosteroid drug (methylprednisolone) to stop the attack, and an immunosuppressive drug (azathioprine) for prevention of subsequent attacks. If frequent relapses occur, some individuals may need to continue a low dose of steroids for longer periods. Plasma exchange (plasmapheresis) is a technique that separates antibodies out of the blood stream and is used with people who are unresponsive to corticosteroid therapy. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with the appropriate medications and therapies. Individuals with major disability will require the combined efforts of occupational therapists, physiotherapists, and social services professionals to address their complex rehabilitation needs.

What is the prognosis for neuromyelitis optica?

Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of myelin. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience a moderate degree of permanent limb weakness from myelitis. Muscle weakness can cause breathing difficulties and may require the use of artificial ventilation. The death of an individual with NMO is most often caused by respiratory complications from myelitis attacks.

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What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to NMO in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure rare neurological syndromes such as NMO.