Dr. Sivakumar coordinates a multi-disciplinary clinic for patients diagnosed with ALS, Muscular Dystrophy, and diseases involving muscular atrophy.  These clinics include specialized care for speech, dietary needs, respiratory care, muscle strength and range of movement, and social services.

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Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body.

More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pattern of development, and prognosis. Impaired function and symptoms depend on the type of nerves -- motor, sensory, or autonomic -- that are damaged.  Some people may experience temporary numbness, tingling, and pricking sensations, sensitivity to touch, or muscle weakness. Others may suffer more extreme symptoms, including burning pain (especially at night), muscle wasting, paralysis, or organ or gland dysfunction. Peripheral neuropathy may be either inherited or acquired. Causes of acquired peripheral neuropathy include physical injury (trauma) to a nerve, tumors, toxins, autoimmune responses, nutritional deficiencies, alcoholism, and vascular and metabolic disorders. Acquired peripheral neuropathies are caused by systemic disease, trauma from external agents, or infections or autoimmune disorders affecting nerve tissue. Inherited forms of peripheral neuropathy are caused by inborn mistakes in the genetic code or by new genetic mutations.

Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that control breathing and neck and limb movements may also be affected. Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. In myasthenia gravis, antibodies produced by the body's own immune system block, alter, or destroy the receptors for acetylcholine. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles, difficulty in swallowing, or slurred speech. Symptoms vary in type and severity. Myasthenia gravis is not directly inherited nor is it contagious. The first steps in diagnosing myasthenia gravis include a review of the individual's medical history and physical and neurological examinations. If the doctor suspects myasthenia gravis, several diagnostic tests are available to confirm the diagnosis, including a special blood test that can detect the presence of immune molecules or acetylcholine receptor antibodies.

Is there any treatment?

Myasthenia gravis can be controlled. Some medications improve neuromuscular transmission and increase muscle strength, and some suppress the production of abnormal antibodies. These medications must be used with careful medical follow up because they may cause major side effects. Thymectomy, the surgical removal of the thymus gland (which often is abnormal in myasthenia gravis patients), improves symptoms in certain patients and may cure some individuals, possibly by re-balancing the immune system. Other therapies include plasmapheresis, a procedure in which abnormal antibodies are removed from the blood, and high-dose intravenous immune globulin, which temporarily modifies the immune system and provides the body with normal antibodies from donated blood.

What is the prognosis?

With treatment, the outlook for most patients with myasthenia is bright: they can expect to lead normal or nearly normal lives. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.

Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Amyotrophic Lateral Sclerosis (ALS), also known in the US as Lou Gehrig's Disease, is a motor neuron disease that affects people of all ages and race.  There are two basic types of ALS, familial and sporadic.  The symptoms of both are the same.  Approximately 8 to 10 percent of all patients with ALS have the familial type which means that they have a genetic predisposition to getting ALS.  The remaining 90 percent of patients have sporadic ALS which means that there is no known cause for the development of the disease.

The initial symptoms of ALS vary widely.  For some patients, the first signs are speech difficulty or shortness of breath and for others it may be weakness in the limbs or fatigue.  The symptoms can be so subtle at first that patients do not even realize there is a problem.  When the symptoms worsen or do not go away, patients usually seek medical diagnosis.

Most doctors are very cautious about diagnosing ALS.  If the symptoms of weakness or fatigue are isolated to a single limb or do not progress, the diagnosis of ALS is not usually given.  Doctors must see a progression of weakness in order to diagnose it as ALS.  One symptom that is rather unique to ALS is muscle fasciculations - involuntary twitches of the muscles.  Typically doctors look for a particular group of symptoms and progression of the disease over time to aid in the proper diagnosis.  Many tests will be run to rule out other treatable diseases before an ALS diagnosis is made.

One common test used in determining the type of neuromuscular disease that a patient is experiencing is a test referred to as an EMG.  The long version of that is electromyography.  This test uses very thin needles strategically placed in the muscles to measure muscle activity (voluntary and involuntary).   The test usually takes 30-45 minutes and causes minimal discomfort.

Muscle biopsy can also be used to aid in determining whether the disease is ALS.  A muscle biopsy requires anesthetic and has potential surgical complications, as with any procedure of this type.  It is done as an outpatient procedure and patients usually recover at home very quickly.  Click here for information and consent for biopsy.

Unfortunately, there is no cure for ALS.  The only FDA approved medication at this time for this disease is Rilutek.  This drug may slow the rate of disease progression for some patients.  We also recommend over-the-counter Vitamin E and Creatine.  We also recommend that our ALS patients come to our ALS clinic every 3 months (more often if indicated) to see our multi-disciplinary team.  The team provides:

 assessment of muscle strength and counseling on how to maintain muscle strength as well as how to work within the current limitations;
 speech assessment and counseling on how to cope with speech limitation;  dietary assessment, swallowing techniques, counseling on when to consider a feeding tube;  respiratory assessment, provision of breathing aids as they become necessary;  resources for patients with ALS
 counseling on home care, family dynamics, and eventually end of life issues.

We encourage patients to learn as much as they can about this disease through their own research and to present questions at their visits.  Because the FDA approved treatment available is very limited, we encourage our patients to consider investigational studies.  Before agreeing to be in a research study, it is very important that the patient discuss this with Dr. Sivakumar to ensure that it is the best option.

Ultimately this disease is fatal.  Once diagnosed, the average life expectancy is 2 to 5 years.  Our goal is to make sure that the patient and family is provided with the resources needed to cope with this disease.  While there is no known cure, we can make the patient more comfortable and try to slow the rate of progression.

Here are a few web sites that patients with ALS may find helpful:

ALS Association
www.alsa.org

Muscular Dystrophy Association
www.mdausa.org/disease/als.html

ALS Network
www.alsnetwork.com