Autosomal dominant Charcot-Marie-Tooth disease type 2
Chronic nervous system disorder
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Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2Q
autosomaal dominante CMT 2Q
autosomaal dominante HMSN 2Q
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Q
Id773393001
StatusPrimitive
Associated morphologyAtrophy
Finding siteNerve structure
Clinical courseProgressive
Finding sitePeripheral nervous system structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified