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autosomaal recessieve tweedemotorneuronziekte beginnend op kinderleeftijd (aandoening)
autosomaal recessieve tweedemotorneuronziekte beginnend op kinderleeftijd
distale spinale musculaire atrofie type 4
autosomaal recessieve distale spinale musculaire atrofie type 4
autosomaal recessieve distale spinale spieratrofie type 4
DSMA4
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 4
A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.
Id771302009
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified