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Juvenile amyotrophic lateral sclerosis (disorder)
Juvenile amyotrophic lateral sclerosis
JALS - juvenile amyotrophic lateral sclerosis
A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2).
juveniele amyotrofische laterale sclerose
juveniele ALS
Id718555006
StatusPrimitive
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified
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