A rare genetic distal myopathy disorder with characteristics of middle age-onset 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 has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
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Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Designation Type
PHIN Preferred Term Flag
Code Flag
3702811017
Adult-onset distal myopathy due to VCP (valosin containing protein) mutation
Active
Synonym
false
false
3702813019
Adult-onset distal myopathy due to VCP mutation
Active
Synonym
false
false
3702814013
Adult-onset distal myopathy due to valosin containing protein mutation