It is possible that the main title of the report Nemaline Myopathyis not the name you expected.
- Congenital Rod Disease
- Rod Myopathy
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 E. Sunrise Dr
Tucson, AZ 85718
Muscular Dystrophy Campaign
7-11 Prescott Place
London, SW4 6BS
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda, MD 20892-2540
Nemaline Myopathy Website
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4,
Gzira, Intl GAR 04
Tel: 00356 21 346688
Fax: 00356 21 318024
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
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Last Updated: 10/22/2007
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