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Congenital muscular dystrophy




Congenital muscular dystrophy
Classification & external resources
ICD-10 G71.2
ICD-9 359.0
eMedicine neuro/549 

Additional recommended knowledge

Congenital muscular dystrophy (CMD) is the term used to describe muscular dystrophy that is present at birth. CMD describes a number of autosomal recessive diseases of muscle weakness and possible joint deformities, present at birth and slowly progressing. Life expectancies for affected individuals vary, although some forms of CMD do not affect life span at all.

All such known dystrophies are genetically recessive and result from mutations in a variety of different genes, including those encoding the laminin-α2 chain, fukutin-related protein, LARGE and fukutin, amongst others. Currently there is no cure. Physical and occupational therapy, surgery, wheelchairs and other assistive technology may be helpful.

Classification

A classification for CMDs had been proposed in 2004 by Muntoni and Voit, based on genetic mutation.[1]

  • Genes encoding for putative or demonstrated glycosyltransferases, that in turn affect the glycosylation of dystroglycan, an external membrane protein of the basal membrane.
    • Walker-Warburg syndrome
    • MEB disease
    • Fukuyama CMD (FCMD)
    • CMD plus secondary laminin deficiency 1 (MDC1B)
    • CMD plus secondary laminin deficiency 2 (mutation in fukitin-related protein, MDC1C)
    • CMD with mental retardation and pachygyria (mutation in LARGE, MDC1D)

References

  1. ^ Muntoni F, Voit T (2004). "The congenital muscular dystrophies in 2004: a century of exciting progress". Neuromuscul. Disord. 14 (10): 635-49. doi:10.1016/j.nmd.2004.06.009. PMID 15351421.



 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Congenital_muscular_dystrophy". A list of authors is available in Wikipedia.
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