congenitale spierdystrofie van Paradas-type (aandoening)
congenitale spierdystrofie van Paradas-type
Congenital muscular dystrophy Paradas type
Congenital myopathy Paradas type
An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive.
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified