Becker muscular dystrophy (BMD): clinical features
Evidence-based neurology checklist on becker muscular dystrophy (bmd): clinical features: Genetics BMD is caused by X-linked in-frame mutations of the dystrophin gene Most mutations are in exons 45-60 Most cases are caused by deletions Point-mutations and duplications also occur Mutations cause…
Genetics
- BMD is caused by X-linked in-frame mutations of the dystrophin gene
- Most mutations are in exons 45-60
- Most cases are caused by deletions
- Point-mutations and duplications also occur
- Mutations cause reduced dystrophin: this is proportional to the size of the deletions
- The median onset age is 8 years: the range is 3-36 years
Neurological features
Cardiac features
Respiratory features
Atypical neurological features
Severe phenotype
Female carriers: features
References
- van den Bergen JC, Schade van Westrum SM, Dekker L, et al. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. JNNP 2014; 85:92-98.
- Ramelli GP, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder JM. Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss Med Wkly 2006; 136:189-193.
- Comi GP, Prelle A, Bresolin N, et al. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 1994; 117:1-14.
- Bushby KM, Gardner-Medwin D, Nicholson LV, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol 1993; 240:105-112.
- Wang , Yang X, Yan Y, Song N, Lin C, Jin C. Duchenne or Becker muscular dystrophy: a clinical, genetic and immunohistochemical study in China. Neurol India 2011; 59:797-802.
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