Autosomal dominant Charcot-Marie-Tooth disease type 2F

Orpha code: 99940OMIM code: 606595

Definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

Disease data
Classification

Disease

Synonyms
CMT2F
CMT2F
ORPHA code
99940
OMIM code
606595
ICD10 code
G60.0
ICD11 code
-

No additional description.

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