Myopathy, Myofibrillar

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Myopathy, Myofibrillar is not the name you expected.

Disorder Subdivisions

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

Resources

Sudden Arrhythmia Death Syndromes Foundation
508 E. South Temple
Suite 202
Salt Lake City, UT 84102
USA
Tel: (801)531-0937
Fax: (801)531-0945
Tel: (800)786-7723
Email: laura@sads.org
Internet: http://www.sads.org

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/

Muscular Dystrophy Campaign
61 Southwark Street
London, SE1 0HL
United Kingdom
Tel: 02078034800
Email: info@muscular-dystrophy.org
Internet: http://www.muscular-dystrophy.org

Cardiac Arrhythmias Research and Education Foundation, Inc. (C.A.R.E)
427 Fulton Street
P.O. Box 69
Seymour, WI 54165
USA
Fax: (920)833-7005
Tel: (800)404-9500
Email: care@careforhearts.org
Internet: http://www.longqt.org or http://www.careforhearts.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  4/26/2010
Copyright  1994, 1995, 2000, 2010 National Organization for Rare Disorders, Inc.

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