has material basis in germline mutation in PMP22 Charcot-Marie-Tooth disease type 1A https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_1a https://www.malacards.org/card/charcot_marie_tooth_disease_type_1a DECIPHER:29 CMT1A Charcot Marie Tooth disease type 1A MEDGEN:75727 UMLS:C0270911 hereditary motor and sensory neuropathy 1A HMSN 1A OMIM:118220 Charcot-Marie-Tooth syndrome type 1A MONDO:0007309 DOID:0110148 Charcot-Marie-Tooth disease, demyelinating, type 1A NCIT:C75468 GARD:0001245 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. Orphanet:101081 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease, type 1A microduplication 17p12 HMSN1A CMT 1A partial duplication of the short arm of chromosome 17 Charcot-Marie-Tooth disease type 1