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Adult-onset distal myopathy due to valosin containing protein mutation (disorder)
Adult-onset distal myopathy due to valosin containing protein mutation
Adult-onset distal myopathy due to VCP mutation
Adult-onset distal myopathy due to VCP (valosin containing protein) mutation
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.
distale myopathie door mutatie in 'valosin-containing protein' beginnend op volwassen leeftijd
distale myopathie door VCP-mutatie op volwassen leeftijd
Id770792007
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceAdulthood
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified