Adult-onset distal myopathy due to VCP mutation

Orpha code: 329478OMIM code:

Definition

A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Disease data
Classification

Disease

ORPHA code
329478
OMIM code
-
ICD10 code
G71.0
ICD11 code
-

No additional description.

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