Autosomal recessive hereditary disorder
Congenital hereditary muscular dystrophy
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Congenital muscular dystrophy Paradas type (disorder)
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.
congenitale spierdystrofie Paradas-type
Id725420009
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified