[Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy]

Rev Med Liege. 2017 Jul;72(7-8):373-376.
[Article in French]

Abstract
in English, French

We report the case of a 26-year-old man who initiated a limb girdle muscular dystrophy (lgmd2b). It is a rare and slowly progressive autosomal recessive dysferlinopathy occurring in young adults and for which no treatment is currently known.

Nous rapportons le cas clinique d’un homme de 26 ans présentant une dystrophie musculaire des ceintures de type 2b (lgmd2b). Il s’agit d’une dysferlinopathie autosomique récessive, pathologie rare, lentement progressive, survenant chez de jeunes adultes et pour laquelle aucun traitement n’est actuellement connu.

Keywords: Autosomal recessive myopathy; Dysferlinopathy; Muscular dystrophy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dysferlin / genetics
  • Humans
  • Male
  • Muscle Weakness / etiology*
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Mutation

Substances

  • DYSF protein, human
  • Dysferlin

Supplementary concepts

  • Limb-girdle muscular dystrophy, type 2B