How was limb-girdle muscular dystrophy (LGMD) initially defined?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Walton and Nattrass first proposed limb-girdle muscular dystrophy (LGMD) as a nosological entity in 1954. [1] Their definition included the following characteristics:

  • Expression in either male or female sex

  • Onset usually in the late first or second decade of life (but also middle age)

  • Usually autosomal recessive and less frequently autosomal dominant

  • Primary involvement of shoulder or pelvic-girdle muscles with variable rates of progression

  • Variable rates of progression

  • Severe disability within 20–30 years

  • Muscular pseudohypertrophy, contractures uncommon

Their definition was primarily reliant on phenotypic appearance, and thus included a heterogenous groups of disorders, including some that were not truly LGMD.


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