Autosomal recessive hereditary disorder	Autosomal recessive hereditary motor neuron disease	Chronic disease of musculoskeletal system	Chronic nervous system disorder	Disorder of skeletal muscle	Distal spinal muscular atrophy	Hereditary disorder of musculoskeletal system	Hereditary myopathy
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Autosomal recessive lower motor neuron disease with childhood onset (disorder)
	Autosomal recessive lower motor neuron disease with childhood onset
	Distal spinal muscular atrophy type 4 Autosomal recessive 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.
	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

Id	771302009
Status	Primitive

Finding site	Skeletal muscle structure
Occurrence	Childhood

Finding site	Structure of nervous system
Occurrence	Childhood

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G12.2
Rule	TRUE
Advice	ALWAYS G12.2
Correlation	SNOMED CT source code to target map code correlation not specified