Nemaline Myopathy - General Discussion

SYMPTOMS & TREATMENTS

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.

This is an abstract of a report from the National Organization for Rare Disorders, Inc. (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 10/22/2007
Copyright 1986, 1987, 1989, 1990, 1994, 1998, 1999, 2001, 2007National Organization for Rare Disorders, Inc.

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