Charcot-Marie-Tooth disease type 1C

Orpha code: 101083OMIM code: 601098

Definicja

A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.

Disease data
Klasyfikacja

Disease

Synonimy
CMT1C
CMT1C
Kod ORPHA
101083
Kod OMIM
601098
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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