Myopathy

The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows:congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birthmuscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birthmitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRFglycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseasesmyoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseasesdermatomyositis: an inflammatory myopathy of skin and musclemyositis ossificans: characterized by bone growing in muscle tissuefamilial periodic paralysis: characterized by episodes of weakness in the arms and legspolymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscleneuromyotonia: characterized by alternating episodes of twitching and stiffness; andstiff-man syndrome:  characterized by episodes of rigidity and reflex spasmscommon muscle cramps and stiffness, andtetany:  characterized by prolonged spasms of the arms and legs

Treatment

Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery.

Prognosis

The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.

Research

The NINDS supports and conducts an extensive research program on neuromuscular disorders such as the myopathies. Much of this research is aimed at increasing scientific understanding of these disorders, and finding ways to prevent, treat, and cure them.

Organizations

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

National Institutes of Health, DHHS
31 Center Dr., Rm. 4C02 MSC 2350
Bethesda, MD 20892-2350
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov
Tel: Bethesda

Muscular Dystrophy Association
Voluntary health agency that fosters neuromuscular disease research and provides patient care funded almost entirely by individual private contributors. MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases.

National Office - 222 S. Riverside Plaza
Suite 1500
Chicago, IL 60606
mda@mdausa.org
http://www.mda.org
Tel: Chicago
Fax: 520-529-5300

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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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