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FKRP-related limb-girdle muscular dystrophy R9

Disease definition

A form 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, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.

ORPHA:34515

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2I
    • FKRP-related LGMD R9
    • LGMD due to FKRP deficiency
    • LGMD type 2I
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • Limb-girdle muscular dystrophy type 2I
  • 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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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.