Orphanet: LIMS2 related limb girdle muscular dystrophy
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LIMS2-related limb-girdle muscular dystrophy

Disease definition

A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

ORPHA:466801

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2W
    • LGMD type 2W
    • LGMD2W
    • LIMS2-related LGM
    • Limb-girdle muscular dystrophy type 2W
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 616827
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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