limb-girdle muscular dystrophy type 2D (LGMD2D)
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Epidemiology
- resembles Duchenne muscular dystrophy or Becker muscular dystrophy, but affects females as well as males
Pathology
- degenerative myopathy
- muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan
- adhalin deficiency
Genetics
- autosomal recessive
- associates with defects in SGCA (adhalin)
Clinical manifestations
- progressive muscle wasting from early childhood with loss of independent ambulation by teenage years
- phenotype is less severe than LGMD2C (limb-girdle muscular dystrophy type 2C)
More general terms
References
- ↑ Lim LE et al Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265 1995 PMID: https://www.ncbi.nlm.nih.gov/pubmed/7581448