Nonaka myopathy (GNE myopathy)


Engelsk navn: GNE myopathy
Engelske synonym: DMRV,Distal myopathy with rimmed vacuoles,Distal myopathy, Nonaka type,HIBM2,Hereditary inclusion body myopathy type 2,IBM2,Inclusion body myopathy type 2,Nonaka myopathy,Quadriceps-sparing myopathy


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.



Informasjon

Nevromuskulært kompetansesenter (UNN) har kunnskap om diagnosen.

ORPHA: 602
Klassifiseringsnivå: Disorder
ICD-10: G71.8



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