{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:27:32Z","timestamp":1786739252392,"version":"build-2736575974"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:p>Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a member of the inherited neuropathy family with specific clinical and genetical manifestations. More than twenty genes have been linked to HMSN, and the number might increase. Regarding diagnosis, a healthcare provider should be suspicious if the patient is young with a family history. Integrative diagnosis, which includes electrophysiological, radiological, and genetic screening, is of great value to exclude metabolic, nutritive-toxic, infectious, and inflammatory or autoimmunological causes and to reach the exact subtype of hereditary neuropathy. Nowadays, next-generation sequencing-based analysis is becoming a routine diagnostic tool for inherited neuropathy, but if this facility is not available, electrophysiological and radiological diagnoses are the best diagnostic tools to be used. Differentiation between hereditary neuropathy and diabetic neuropathy is essential for primary care physicians to have the right plan.<\/jats:p>","DOI":"10.4103\/jfmpc.jfmpc_1513_23","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T06:19:40Z","timestamp":1718345980000},"page":"2511-2515","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Electrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy"],"prefix":"10.4103","volume":"13","author":[{"given":"Thamir","family":"Al-Khlaiwi","sequence":"first","affiliation":[{"name":"Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imran","family":"Meo","sequence":"additional","affiliation":[{"name":"Clinical Physiology Unit, King Abdul-Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad A.","family":"Butt","sequence":"additional","affiliation":[{"name":"Primary Care Unit, King Abdul-Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeena","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Radiology and Imaging, King Abdul-Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,6,14]]},"reference":[{"key":"R1-20260204","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/j.1469-1809.2007.00412.x","article-title":"Charcot-Marie-Tooth disease: A clinico-genetic confrontation","volume":"72","author":"Barisic","year":"2008","journal-title":"Ann Hum Genet"},{"key":"R2-20260204","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jnnp-2014-308826","article-title":"Inherited Neuropathies Consortium. 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