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.
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
rigid spine muscular dystrophy (RSMD1)
Ullrich congenital muscular dystrophy
Congenital muscular dystrophy (CMD) is a general term for a group of genetic muscle diseases that occur at birth (congenital) 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); and delays in reaching motor milestones such as sitting or standing unassisted. Some forms of CMD may be associated with structural brain defects and, potentially, mental retardation. The severity, specific symptoms, and progression of these disorders vary greatly. Most forms of CMD are inherited as autosomal recessive traits. Ullrich CMD, however, is an autosomal dominant condition.
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. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns.
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
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: email@example.com Internet: http://www.mda.org/
Muscular Dystrophy Campaign 61 Southwark Street London, SE1 0HL United Kingdom Tel: 020 7803 4800 Email: firstname.lastname@example.org Internet: http://www.muscular-dystrophy.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 TDD: (301)468-5981 Email: email@example.com Internet: http://www.ninds.nih.gov/
Society for Muscular Dystrophy Information International P.O. Box 7490 Bridgewater Nova Scotia, B4V 2X6 Canada Tel: 902-685-3961 Fax: 902-685-3962 Email: firstname.lastname@example.org Internet: http://www.nsnet.org/smdi/
European Alliance of Neuromuscular Disorders Associations MDG Malta 4 Gzira Road Gzira, Intl GAR 04 Malta Tel: 00356 21 346688 Fax: 00356 21 318024 Email: email@example.com Internet: http://www.eamda.net
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: firstname.lastname@example.org Internet: http://www.netnet.net/mums/
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/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Child Neurology Foundation 2000 West 98th Street Bloomington, MN 55431 USA Tel: (952)641-6100 Fax: (952)881-6276 Tel: (877)263-5430 Email: firstname.lastname@example.org Internet: http://www.childneurologyfoundation.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 email@example.com
Last Updated: 1/6/2010 Copyright 2007 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.