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Congenital Muscular Dystrophy

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Congenital Muscular Dystrophy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • CMD

Disorder Subdivisions

  • congenital muscular dystrophy type 1A (MDC1A; merosin-deficient CMD)
  • congenital muscular dystrophy type 1B (MDC1B)
  • congenital muscular dystrophy type 1C (MDC1C)
  • congenital muscular dystrophy type 1D (MDC1D)
  • congenital muscular dystrophy with integrin deficiency
  • Fukuyama congenital muscular dystrophy
  • muscle-eye-brain disease
  • rigid spine muscular dystrophy (RSMD1)
  • Walker-Warburg syndrome
  • Ullrich congenital muscular dystrophy
  • Bethlem congenital muscular dystrophy
  • LMNA-related disorders
  • SEPN1-related disorders
  • SYNE1-related disorder

General Discussion

Summary
Congenital muscular dystrophy (CMD) is a general term for a group of genetic muscle diseases that occur at birth (congenital) or early during infancy. CMDs are generally characterized by diminished muscle tone (hypotonia), which is sometimes referred to as "floppy baby"; progressive muscle weakness and degeneration (atrophy); abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers cause deformity and restrict the movement of an affected area (contractures); spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. Feeding difficulties and breathing (respiratory) complications can develop in some cases. Muscle weakness may improve, remain stable or worsen. Some forms of CMD may be associated with structural brain defects and, potentially, intellectual disability. The severity, specific symptoms, and progression of these disorders vary greatly. Most forms of CMD are inherited as autosomal recessive traits. Collage type VI-related disorders can be inherited as either autosomal dominant or autosomal recessive conditions. LMNA-related CMD is inherited in an autosomal dominant manner, with all mutations reported to date being new mutations (de novo).

Introduction
CMDs belong to a larger group of disorders known as the muscular dystrophies. The muscular dystrophies characterized by weakness and degeneration of various voluntary muscles of the body. More than 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns. As researchers have learned more about the CMDs, such as identifying many of the specific genes involved, a broader picture of these diseases has emerged. The subtypes of CMD have considerable overlap with other disease classifications including the congenital myopathies, disorders of glycosylation, and the limb-girdle muscular dystrophies. CMDs are a rapidly growing disease family and information about these disorders is constantly changing.

Resources

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

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/

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
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/

Society for Muscular Dystrophy Information International
P.O. Box 7490
Bridgewater
Nova Scotia, B4V 2X6
Canada
Tel: 9026853961
Fax: 9026853962
Email: smdi@auracom.com
Internet: http://www.nsnet.org/smdi/

European Alliance of Neuromuscular Disorders Associations
MDG Malta 4
Gzira Road
Gzira, GAR 04
Malta
Tel: 0035621346688
Fax: 0035621318024
Email: eamda@hotmail.com
Internet: http://www.eamda.net

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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Cure CMD (Congenital Muscular Dystrophy)
P.O. Box 701
Olathe, KS 66051
USA
Tel: (866)400-3626
Email: info@curecmd.com
Internet: http://www.curecmd.org

Child Neurology Foundation
201 Chicago Ave, #200
Minneapolis, MN 55415
USA
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.org

Global FKRP Registry
TREAT-NMD Office
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 4401912418617
Fax: 4401912418770
Email: coordinator@fkrp-registry.org
Internet: https://www.fkrp-registry.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:  5/8/2013
Copyright  2007, 2013 National Organization for Rare Disorders, Inc.

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