Choroba Charcota, Mariego i Tootha typu 1C

Kod Orpha: 101083Kod OMIM: 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.

Dane
Klasyfikacja

Choroba

Synonimy
CMT1C
CMT1C
Kod ORPHA
101083
Kod OMIM
601098
Kod ICD10
G60.0
Kod ICD11
8C20.0

Brak opisu rozszerzonego dla tej choroby. Opracowanie w toku.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl