X-linked Charcot-Marie-Tooth disease type 1

Orpha code: 101075OMIM code: 302800

Definition

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

Disease data
Classification

Disease

Synonyms
CMT1X
CMT1X
CMTX1
CMTX1
ORPHA code
101075
OMIM code
302800
ICD10 code
G60.0
ICD11 code
-

No additional description.

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