Charcot-Marie-Tooth disease type 5

MONDO:0010877

Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.

Also known as: Charcot-Marie-Tooth disease-pyramidal features syndrome, HMSN 5, hereditary motor and sensory neuropathy type 5, CMT with pyramidal features, Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant, Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant, HMSN5, hereditary motor and sensory neuropathy 5

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