/Charcot-Marie-Tooth disease type 2B5

Charcot-Marie-Tooth disease type 2B5

Rare Disease

MONDO:0016454

Also Known As

AR-CMT2B5Charcot-Marie-Tooth disease type 2B5SEOAN due to NEFL deficiencyautosomal recessive Charcot-Marie-Tooth disease type 2B5severe early-onset axonal neuropathy due to NEFL deficiencysevere early-onset axonal neuropathy due to light neurofilament subunit deficiency

Definition

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.