laat optredende distale myopathie Markesbery-Griggs-type (aandoening)
laat optredende distale myopathie Markesbery-Griggs-type
ZASP-gerelateerde myofibrillaire myopathie
Late-onset distal myopathy Markesbery Griggs type
ZASP related myofibrillar myopathy
ZASP (Z-band alternatively spliced PDZ motif protein) related myofibrillar myopathy
A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
SNOMED CT to Orphanet simple map98912
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.8
CorrelationSNOMED CT source code to target map code correlation not specified