Clinical features

LGMD is a clinically heterogeneous disease, from a mild late onset form to severe and even congenital forms.

LGMD is characterised by:

• progressive symmetrical atrophy and weakness of the musccles of:
  • proximal limbs
  • shoulder and pelvic girdles
  • trunk muscles
• the facial muscles are spared

Onset of symptoms is usually during the first two decades of life. Patients are usually confined to a wheelchair within 10-20 yr.

Reference

1. Narayanaswami P et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14;83(16):1453-63.