Congenital muscular dystrophy type 1A
Other Names for this Disease
- Merosin-negative congenital muscular dystrophy
- Merosin-deficient congenital muscular dystrophy
- Muscular dystrophy, congenital, merosin-deficient
- Laminin alpha-2 deficiency
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hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach.Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by
Last updated: 9/26/2011
- M. Fardeau. Congenital muscular dystrophy type 1A. Orphanet. April 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=258. Accessed 9/26/2011.
- Genetics Home Reference contains information on Congenital muscular dystrophy type 1A. This website is maintained by the National Library of Medicine.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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