Bethlem myopathy

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.[2] These include COL6A1, COL6A2, and COL6A3.[3]

Bethlem myopathy
Bethlem myopathy has an autosomal dominant pattern of inheritance (autosomal recessive form exists as well[1])

Presentation

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.[4] 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.[2]

Diagnosis

Treatment

References
  1. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Bethlem myopathy". www.orpha.net. Retrieved 23 December 2017.
  2. 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.
  3. Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders" (PDF). J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
  4. Okada M et al (2007) Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurolog 69:1035–1042
Classification
External resources
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