Becker muscular dystrophy
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A genetically heterogeneous muscular dystrophy affecting males (predominantly) due to mutations in the encoding for the muscle fibre protein dystrophin at Xp21.2, but rarer and milder than Duchenne muscular dystrophy. Female carriers can develop some signs or even complications such as dilative cardiomyopathy. To complicate matters further mutations at the 12q21 region of the genome could affect myogenic factors such as MYF6 [1] which might modify the presentation and make it more severe.
Clinical diagnosis
- Progressive proximal myopathic weakness and wasting with age of onset from just before teens
- Can present in adult life
- Loss of walking can be from adolescence onward
- Death usually in the fourth or fifth decade.
- Rarely a degree of mental impairment.
- Dilated cardiomyopathy (can be presentation)[2]
- Association with pyschiatric illness in one family[3]
References
- ↑ Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, et al. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromuscular disorders : NMD 2000;10(8):572-7.
- ↑ Piccolo G, Azan G, Tonin P, Arbustini E, Gavazzi A, Banfi P, et al. Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromuscular disorders : NMD 1994;4(2):143-6.
- ↑ Zatz M, Vallada H, Melo MS, Passos-Bueno MR, Vieira AH, Vainzof M, et al. Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? Journal of medical genetics 1993;30(2):131-4.
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