/Charcot-Marie-Tooth disease type 5

Charcot-Marie-Tooth disease type 5

Rare Disease

MONDO:0010877

Also Known As

Charcot-Marie-Tooth disease-pyramidal features syndromeHMSN 5hereditary motor and sensory neuropathy type 5hereditary motor and sensory neuropathy with pyramidal featuresCMT with pyramidal featuresCharcot-Marie-Tooth disease with pyramidal features, autosomal dominantCharcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominantHMSN5hereditary motor and sensory neuropathy 5hereditary motor and sensory neuropathy Vperoneal muscular atrophy with pyramidal features, autosomal dominant

Definition

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.