Autosomal recessive hereditary disorder
Autosomal recessive hereditary motor neuron disease
Chronic brain syndrome
Distal spinal muscular atrophy
Progressive muscular atrophy
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Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome
A rare genetic neurodegenerative disease with characteristics of neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.
syndroom van vroeg optredende progressieve encefalopathie, spastische ataxie en distale spinale spieratrofie
Id1172588008
StatusPrimitive
Clinical courseProgressive
Associated morphologyAtrophy
Finding siteStructure of nervous system
Finding siteBrain structure
OccurrenceInfancy
ICD-10 complex map reference set
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified