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Charcot-Marie-Tooth disease axonal type 2L

MONDO:0012096

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is 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.

Also known as: CMT2L, Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8, HSPB8 Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2L, Charcot-Marie-Tooth disease type 2L, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L, Charcot-Marie-Tooth disease, axonal, type 2L, Charcot-Marie-Tooth neuropathy, axonal, type 2L

9 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Charcot-Marie-Tooth disease (43) Human disease (14) Hereditary peripheral neuropathy (6) Hereditary neurological disease (5)
Trials to join now! 7 Not yet recruiting 1 Completed 1
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