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Myopathy, Myofibrillar

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Anne M. Connolly, MD, Professor Neurology and Pediatrics, Department of Neurology, Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of Myopathy, Myofibrillar

  • No synonyms found.

Disorder Subdivisions

  • alpha-B crystallinopathy
  • BAG3-related myofibrillar myopathy
  • desminopathy
  • filaminopathy
  • myotilinopathy
  • zaspopathy

General Discussion

Myofibrillar myopathies are a group of rare genetic neuromuscular disorders that may be diagnosed in childhood but most often appear after 40 years of age. These conditions are highly variable but are characterized by a slowly progressive muscle weakness that can involve skeletal and smooth muscle. Skeletal muscle weakness can be present in the muscles close to the center of the body (proximal) as well as the distal muscles. A weakening of the heart muscle (cardiomyopathy) is common and may manifest as arrhythmia, conduction defects or congestive heart failure.

Myopathy, Myofibrillar Resources

Organizations:

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