Choroba Charcota, Mariego i Tootha typu 4F

Kod Orpha: 99952Kod OMIM: 614895

Definicja

Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

Dane
Klasyfikacja

Choroba

Synonimy
CMT4F
CMT4F
Kod ORPHA
99952
Kod OMIM
614895
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