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FKRP-related limb-girdle muscular dystrophy R9

Disease definition

A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

ORPHA:34515

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2I
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult, Infancy
  • ICD-10: G71.0
  • OMIM: 607155
  • UMLS: C1846672
  • MeSH: -
  • GARD: 12533
  • MedDRA: -

Detailed information

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