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dystonie 16 (aandoening)
dystonie 16
autosomaal recessieve dystonie-parkinsonisme
DYT16
vroeg optredende dystonie met parkinsonisme
Dystonia 16
Early-onset dystonia parkinsonism
A very rare movement disorder with characteristics of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Disease presents in infancy to late childhood with one of two possible phenotypes: either generalized dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalized and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2. Inherited in an autosomal recessive manner.
Id722435003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1
CorrelationSNOMED CT source code to target map code correlation not specified