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
Bethlem congenital muscular dystrophy
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.
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: firstname.lastname@example.org Internet: http://www.mda.org/
Muscular Dystrophy Campaign 61 Southwark Street London, SE1 0HL United Kingdom Tel: 02078034800 Email: email@example.com 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: firstname.lastname@example.org 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: email@example.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/
Child Neurology Foundation 201 Chicago Ave, #200 Minneapolis, MN 55415 USA Tel: (952)641-6100 Fax: (952)881-6276 Tel: (877)263-5430 Email: firstname.lastname@example.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: email@example.com Internet: https://www.fkrp-registry.org/
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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
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Last Updated: 5/8/2013 Copyright 2007, 2013 National Organization for Rare Disorders, Inc.
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