Centronuclear Myopathy

National Organization for Rare Disorders, Inc.

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

Disorder Subdivisions

  • None

General Discussion

Summary

Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual. There are several genetic forms of CNM including an X-linked form known as myotubular myopathy (XLMTM) and a few autosomal forms, usually referred to as centronuclear myopathy. Autosomal refers to genes that are found on autosomes, or chromosomes other than the X or Y chromosomes (sex chromosomes). Generally, the autosomal forms are less severe than XLMTM, however, in rare cases, individuals with an autosomal form can develop severe complications that are similar to those seen in XLMTM. CNMs derive their name from the abnormal location of the nucleus in the center of the muscle fiber (muscle cell) rather than the normal position on the edge. Centronuclear myopathies can be further classified into the larger, broader category of congenital myopathy, a group of genetic muscle disorders that are present at birth.

Common symptoms include mild to profound muscle weakness and diminished muscle tone (hypotonia or "floppiness"). In more severe cases, feeding difficulties and potentially severe breathing complications (respiratory distress) may occur. Feeding difficulties and respiratory distress develop because of weakness of the muscles that are involved in swallowing and breathing. Involvement of the muscles controlling eye movements is common in all different forms. The overall severity of the disorder can range from mildly affected individuals to individuals who develop severe, life-threatening complications during infancy and early childhood. Three different genes, DNM2, BIN1, and RYR1, have been identified that cause autosomal forms of CNM. XLMTM is caused by mutations to the myotubularin (MTM1) gene.

Introduction

In the medical literature, centronuclear myopathy (CNM) is generally used for the autosomal forms of the disorder and myotubular myopathy is generally used for the X-linked form (XLMTM). Distinguishing between the X-linked myotubular form and the autosomal forms of CNM is essential as the symptoms are usually more severe in the X-linked form. NORD has a separate report on X-linked myotubular myopathy that describes that form in greater detail. This report specifically deals with the autosomal forms of centronuclear myopathy.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Contact A Family

209-211 City Road
London, EC1V 1JN
United Kingdom
Tel: 2076088700
Fax: 2076088701
Tel: 8088083555
Email: info@cafamily.org.uk
Website: http://www.cafamily.org.uk/

Cure CMD (Congenital Muscular Dystrophy)

P.O. Box 701
Olathe, KS 66051
USA
Tel: (866)400-3626
Email: info@curecmd.com
Website: http://www.curecmd.org

European Alliance of Neuromuscular Disorders Associations

Linhartova 1
SI-1000 Ljubljana
Slovenia, GAR 04
Malta
Tel: 386 (0)1 47 20 500
Email: info@eamda.eu
Website: http://www.eamda.eu/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Joshua Frase Foundation

P.O. Box 2041
Ponte Vedra Beach, FL 32004
USA
Tel: 904-607-1358
Fax: 904-273-9818
Email: info@joshuafrase.org
Website: http://www.joshuafrase.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
Website: http://www.mda.org/

Muscular Dystrophy Campaign

61 Southwark Street
London, SE1 0HL
United Kingdom
Tel: 2078034800
Email: info@muscular-dystrophy.org
Website: http://www.muscular-dystrophy.org

Myotubular Myopathy Resource Group

2602 Quaker Drive
Texas City, TX 77590
Tel: (409)945-8569
Email: info@mtmrg.org
Website: http://www.mtmrg.org

Myotubular Trust

15a Barnard Road
London SW11 1QT
England
Tel: 07518 113692
Email: contact@myotubulartrust.org
Website: http://www.myotubulartrust.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

ZNM- Zusammen Stark! e. V.

Käte-Hamburger-Weg 8
70569 Stuttgart
Germany
Email: holfischer@posteo.org
Website: http://www.znm-zusammenstark.org/en/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  5/20/2013
Copyright  2013 National Organization for Rare Disorders, Inc.