Charcot-Marie-Tooth disease type 2B5

A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.

Also known as: AR-CMT2B5, Charcot-Marie-Tooth disease type 2B5, SEOAN due to NEFL deficiency, autosomal recessive Charcot-Marie-Tooth disease type 2B5, severe early-onset axonal neuropathy due to NEFL deficiency, severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

9 clinical trials for this condition and its sub-types, 1 tagged with Charcot-Marie-Tooth disease type 2B5 itself.