limb-girdle muscular dystrophy type 2B (LGMD2B)

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)

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: 7581448