Charcot-Marie-Tooth disease type 2T

Orpha code: 495274OMIM code: 617017

Definition

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.

Disease data
Classification

Disease

Synonyms
AR-CMT2T
Choroba Charcota, Mariego i Tootha aksonalna, autosomalna recesywna, typu 2T
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
CMT2T
ORPHA code
495274
OMIM code
617017
ICD10 code
G60.0
ICD11 code
-

No additional description.

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