Autosomal dominant Charcot-Marie-Tooth disease type 2L

Orpha code: 99945OMIM code: 608673

Definicja

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.

Disease data
Klasyfikacja

Disease

Synonimy
CMT2L
CMT2L
Kod ORPHA
99945
Kod OMIM
608673
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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