limb-girdle muscular dystrophy type 2B (LGMD2B)
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Pathology
- degenerative myopathy
Genetics
- autosomal recessive
- associated with defects in DYSF
Clinical manifestations
- muscle weakness
- muscle atrophy
- signs/symptoms start in the proximal pelvifemoral muscles
- onset is in the late teens or later
- slow progression
- scapular muscle involvement is minor & not present at onset
- upper limb girdle involvement follows some years after onset in lower limbs
Laboratory
- serum creatine kinase: massive elevation
- dysferlin in leukocytes (defective, may or may not be present)
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