has material basis in germline mutation in GDAP1 Charcot-Marie-Tooth disease type 4A https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4a https://www.malacards.org/card/charcot_marie_tooth_disease_type_4a_2 CMT4A Orphanet:99948 OMIM:214400 icd11.foundation:1476665103 DOID:0110185 GDAP1 Charcot-Marie-Tooth disease type 4 UMLS:C1859198 MONDO:0008961 Charcot-Marie-Tooth disease, type 4A MESH:C535419 MEDGEN:347821 Charcot Marie Tooth disease type 4A SCTID:715796006 GARD:0001252 Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1 Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease type 4