Orphanet: Plectin related limb girdle muscular dystrophy R17
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Plectin-related limb-girdle muscular dystrophy R17

Disease definition

A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

ORPHA:254361

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2Q
    • LGMD type 2Q
    • LGMD2Q
    • Limb-girdle muscular dystrophy type 2Q
    • Plectin-related LGMD R17
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 613723
  • UMLS: -
  • MeSH: -
  • GARD: 12542
  • MedDRA: -

Detailed information

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