Bethlem myopathy

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Bethlem myopathy
Classification and external resources
OMIM 158810
DiseasesDB 32019

Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen.[1] These include COL6A1, COL6A2, and COL6A3.[2]

Bethlem myopathy has an autosomal dominant pattern of inheritance.

Presentation[edit]

The onset of this disease can begin even before birth but is more commonly in childhood or later into adult life. The progression is slow, with symptoms of weakness and walking difficulties sometimes not presenting until middle age. Early symptoms include Gower's sign ("climbing" up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures.

Bethlem myopathy affects about 1 in 200 000 people.[citation needed] Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich's myopathy (which does include contractures of arms and legs, as does Bethlem myopathy). Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect a normal life span and continued mobility into adulthood. There is currently no cure for this disorder, but the contractures of the legs can be alleviated with heel-cord surgery followed by bracing and regular physical therapy. Repeated surgeries to lengthen the heel cords may be needed as the child grows to adulthood.[1]

References[edit]

  1. ^ a b Jobsis GJ, Boers JM, Barth PG, de Visser M (1999). "Bethlem myopathy: a slowly-progressive congenital muscular dystrophy with contractures". Brain 122 (4): 649–655. doi:10.1093/brain/122.4.649. PMID 10219778. 
  2. ^ Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002. 

External links[edit]