GTR Home > Conditions/Phenotypes > Limb-girdle muscular dystrophy, type 2A

Disease characteristics

Excerpted from the GeneReview: Calpainopathy
Calpainopathy is characterized by symmetric and progressive weakness of proximal (limb-girdle) muscles. The age at onset of muscle weakness ranges from two to 40 years. The phenotype shows intra- and interfamilial variability ranging from mild to severe. Three calpainopathy phenotypes have been identified based on the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophies (LGMDs) (Leyden-Möbius) phenotype, the most frequently observed calpainopathy phenotype, in which muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle with onset before age 12 years or after age 30 years; Scapulohumeral LGMD (Erb) phenotype, usually a milder phenotype with infrequent early onset, in which muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; and HyperCKemia, usually observed in children or young individuals, in which asymptomatic individuals have only high serum creatine kinase (CK) concentrations. Clinical findings include the tendency to walk on tiptoes, difficulty in running, scapular winging, waddling gait, and slight hyperlordosis. Other findings include symmetric weakness of proximal more than distal muscles in the limbs, trunk, and periscapular area; laxity of the abdominal muscles; Achilles tendon shortening; scoliosis; and joint contractures. Affected individuals typically do not have cardiac involvement or intellectual disability.

Associated genes

Clinical features

  • Difficulty walking
  • Eosinophilia
  • Flexion contracture
  • Clumsiness
  • Elevated serum creatine phosphokinase
  • Scapular winging
  • Proximal amyotrophy
  • Facial palsy
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