Inherited peripheral neuropathies: what does a paediatrician need to know?. Issue 10 (October 2022)

• Record Type: Journal Article
• Authors: Majumdar, Anirban
• Is Part Of: Paediatrics and child health. Volume 32:Issue 10(2022)
• Page Start: 368
• Page End: 371
• Publication Date: 2022-10
• Subjects: Charcot Marie Tooth (CMT) -- Hereditary motor sensory neuropathy (HMSN) -- Inherited peripheral neuropathy -- Next generation sequencing (NGS); Pediatrics -- Periodicals; Pediatrics -- Periodicals; Pédiatrie -- Périodiques; 618.920005
• DOI: 10.1016/j.paed.2022.07.008
• Languages: English
• ISSNs: 1751-7222

Abstract

Abstract: Collectively, inherited peripheral neuropathies (IPN) are relatively common in children. They have a combined estimated incidence of 1 in 2500 live births. Therefore, it is likely that most paediatricians and many healthcare professionals working in primary care settings will encounter children with IPN during their careers. This article outlines when to suspect an IPN, the common manner of presentation and how to diagnose and classify these conditions in children. It offers advice on the differential diagnosis, the genetic aspects of childhood IPN and the importance of genetic counselling. The modern aspects of diagnosis, which often use next generation sequencing to rapidly diagnose both common and rare IPNs, are considered. The common surveillance measures and treatment modalities together with the basic science developments that underpin future treatments for IPNs are discussed.