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    Congenital Muscular Dystrophy

    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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