CMT III
Også kjent som: Dejerine-Sottas syndrom, CMT 3
Engelsk navn: Dejerine-Sottas syndrome
Engelske synonym: Charcot-Marie-Tooth disease type 3,HMSN 3,HMSN III,Hereditary motor and sensory neuropathy type 3,Hereditary motor and sensory neuropathy type III
Definisjon
A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) and <i>PRX</i> (19q13.2) have been implicated.
Fra Orphanet
ORPHA: 64748
Klassifiseringsnivå: Disorder
ICD-10: G60.0
Mer informasjon
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