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Types of Neuromuscular Disorders
 

ALS (Lou Gehrig's Disease)

Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. The progressive degeneration of these nerve cells, or motor neurons, eventually leads to their death. With the ability of the brain to initiate and control muscle movement lost, patients in the later stages of the disease may become totally paralyzed.

Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. It is important to remember that ALS is a quite variable disease; no two people will have the same experience. While some patients may deteriorate rapidly, in others the disease will progress at a very slow rate.

Although the cause of ALS is not completely understood and no cure is currently available, recent years have brought a wealth of new scientific understanding regarding the physiology of this disease. Significant breakthroughs in ALS management can help prolong survival while helping people maintain as much independence as possible.

Muscular Dystrophy (MD)

There are several kinds of muscular dystrophy, all of them genetic. Although they vary in severity, all are 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.

Duchenne is the most common form of MD and while it primarily affects boys, girls may pass the disease on to their offspring. Caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle, Duchenne begins in early childhood and progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe.

Becker MD is a similar but less severe form of Duchenne.

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 and can result in symptoms that vary from mild to disabling.

Myotonic MD is the disorder's most common adult form and is characterized 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.

Myasthenia Gravis

Myasthenia gravis is a neuromuscular disease that causes weakness in the skeletal muscles of the body, in particular those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing. In some cases the muscles that control breathing and neck and limb movements may also be affected.

Myasthenia gravis is caused by a genetic defect in the transmission of nerve impulses to the affected muscles. The onset of the disorder may be sudden and because symptoms mimic those of other neuromuscular disorders, the problem is often not immediately diagnosable.

Today, myasthenia gravis can largely be controlled by medication, and most individuals with the disorder can enjoy a normal life expectancy. In severe cases, surgical removal of the thymus gland may reduce or even eliminate symptoms.

Spinal Muscular Atrophy

Spinal muscular atrophy is a genetic disorder in which loss of nerve cells in the spinal cord (motor neurons) affects the muscles that control voluntary movement. Caused by a deficiency of an essential motor neuron protein, the disease usually begins during infancy and early childhood and may vary in severity, depending on the age of onset. Generally, disorders that begin in early infancy progress rapidly and have a higher mortality rate. Except for cases with severely compromised respiratory function, most patients experience normal life spans with varied degrees of disability.

Treatment of spinal muscular atrophy may consist of medical management of symptoms as well as physical therapy and assistive devices to maintain optimum mobility.

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