Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Orpha code: 329258OMIM code: 615025

Definition

A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by 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.

Disease data
Classification

Disease

Synonyms
CMT2Q
CMT2Q
ORPHA code
329258
OMIM code
615025
ICD10 code
G60.0
ICD11 code
-

No additional description.

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