National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Nemaline Myopathy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Nemaline myopathy is a rare genetic muscle disorder. Myopathy is a general medical term meaning "disease of the muscle". At least six different forms of nemaline myopathy have been identified. The severity, age of onset, and inheritance pattern varies among these different forms of nemaline myopathy. A severe form that is present at birth (congenital) can cause life-threatening complications. Milder forms and a form with onset in adulthood have also been identified. Most affected individuals have a milder form of the disorder known as typical congenital nemaline myopathy. Most individuals with this form are able to walk and lead active lives. Characteristic symptoms of all forms of nemaline myopathy include muscle weakness, diminished muscle tone (hypotonia), and absence of certain reflexes. In most cases, muscle weakness does not worsen or spread (nonprogressive), though it some cases it may. The inheritance patterns of the six forms of nemaline myopathy also vary; some are inherited as an autosomal recessive trait and some as an autosomal dominant trait.
When certain muscle fibers of individuals with nemaline myopathy are examined under a microscope, they show the presence of fine, thread-like or rod-like structures called "nemaline bodies." The prefix "nemal" is derived from Greek and means "thread-like." Nemaline bodies consist of defective proteins, which are normally required for proper muscle health and function.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Muscular Dystrophy Campaign
61 Southwark Street
London, SE1 0HL
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Nemaline Myopathy Support Group
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4
Gzira, GAR 04
Foundation Building Strength for Nemaline Myopathy
2450 El Camino Real
Palo Alto, CA 94306
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Last Updated: 10/22/2007
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