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Autosomal recessive limb-girdle muscular dystrophy type 2K

ORPHA:86812
Synonym(s) LGMD2K
Limb-girdle muscular dystrophy-intellectual disability syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G71.0
OMIM
UMLS -
MeSH -
GARD
MedDRA -

Summary

Disease definition

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

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