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Genetic and Rare Diseases Information Center (GARD)

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Nemaline myopathy


Other Names for this Disease

  • Congenital rod disease
  • Nemaline body disease
  • Nemaline rod disease
  • Nemaline rod myopathy
  • Rod body disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern.[1]

Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.

Last updated: 3/10/2014

References

  1. Nemaline myopathy. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/nemaline-myopathy. Accessed 3/10/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Nemaline myopathy have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Nemaline myopathy. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Muscular Dystrophy Association (MDA) has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nemaline myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital rod disease
  • Nemaline body disease
  • Nemaline rod disease
  • Nemaline rod myopathy
  • Rod body disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.