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Genetic and Rare Diseases Information Center (GARD)

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Myofibrillar myopathy


Other Names for this Disease
  • Alpha Beta crystallinopathy (type)
  • Desmin related myopathy (former name)
  • Desmin storage myopathy (former name)
  • Desminopathy (type)
  • Filaminopathy (type)
More Names
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Overview


Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present.[1] Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood.[2] It may be caused by mutations in any of several genes, including DES, CRYABMYOT, LDB3, FLNC,  and BAG3;[1] the signs and symptoms of MFM can vary widely depending on the condition's genetic cause.[2] It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness.[1]
Last updated: 3/18/2011

References

  1. Duygu Selcen, Andrew G Engel. Myofibrillar Myopathy. GeneReviews. July 27, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1499/. Accessed 3/17/2011.
  2. Myofibrillar myopathy. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/myofibrillar-myopathy. Accessed 3/17/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Myofibrillar 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Myofibrillar myopathy. Click on the link to view a sample search on this topic.