{"id":5198,"date":"2019-02-28T12:35:36","date_gmt":"2019-02-28T12:35:36","guid":{"rendered":"http:\/\/www.library.sath.nhs.uk\/research\/?p=5198"},"modified":"2019-04-18T16:18:29","modified_gmt":"2019-04-18T15:18:29","slug":"charcot-marie-tooth-disease-type-2s-with-late-onset-diaphragmatic-weakness-an-atypical-case-2018","status":"publish","type":"post","link":"https:\/\/www.library.sath.nhs.uk\/research\/2019\/02\/28\/charcot-marie-tooth-disease-type-2s-with-late-onset-diaphragmatic-weakness-an-atypical-case-2018\/","title":{"rendered":"Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case (2018)"},"content":{"rendered":"<p><strong>Type of publication:<\/strong><br \/>\nJournal article<\/p>\n<p><strong>Author(s):<\/strong><br \/>\nKulshrestha, Richa; Forrester, Natalie; Antoniadi, Thalia; Willis, Tracey; *Sethuraman, Sethil Kumar; Samuels, Martin<\/p>\n<p><strong>Citation:<\/strong><br \/>\nNeuromuscular disorders : NMD; Dec 2018; vol. 28 (no. 12); p. 1016-1021<\/p>\n<p><strong>Abstract:<\/strong><br \/>\nImmunoglobulin-helicase-\u03bc-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Genetic testing revealed two heterozygous variants in the IGHMBP2 gene: c.1156 T&gt;C p.(Trp386Arg) in exon 8 and c.2747G&gt;A p.(Cys916Tyr) in exon 14, that were inherited from his father and mother respectively. At 9 years, he developed diaphragmatic weakness, following which he was established on non-invasive ventilation. Our case emphasizes the importance of life long respiratory surveillance for patients with CMT2S and expands the phenotype of this condition.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Type of publication: Journal article Author(s): Kulshrestha, Richa; Forrester, Natalie; Antoniadi, Thalia; Willis, Tracey; *Sethuraman, Sethil Kumar; Samuels, Martin Citation: Neuromuscular disorders : NMD; Dec 2018; vol. 28 (no. 12); p. 1016-1021 Abstract: Immunoglobulin-helicase-\u03bc-binding protein 2 (IGHMBP2) mutations are associated<span class=\"ellipsis\">&hellip;<\/span><\/p>\n<div class=\"read-more\"><a href=\"https:\/\/www.library.sath.nhs.uk\/research\/2019\/02\/28\/charcot-marie-tooth-disease-type-2s-with-late-onset-diaphragmatic-weakness-an-atypical-case-2018\/\">Read more <span class=\"screen-reader-text\">Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case (2018)<\/span><span class=\"meta-nav\"> &#8250;<\/span><\/a><\/div>\n<p><!-- end of .read-more --><\/p>\n","protected":false},"author":12,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[200],"tags":[768,821],"class_list":["post-5198","post","type-post","status-publish","format-standard","hentry","category-staff-publication","tag-768","tag-charcot-marie-tooth-disease"],"_links":{"self":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/5198","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/comments?post=5198"}],"version-history":[{"count":1,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/5198\/revisions"}],"predecessor-version":[{"id":5256,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/5198\/revisions\/5256"}],"wp:attachment":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/media?parent=5198"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/categories?post=5198"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/tags?post=5198"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}