Charcot–Marie–Tooth Disease

Charcot–Marie–Tooth Disease

Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of genetic principles, including diverse mutational me...

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Main Author: Hafiz Muhammad Noman, Haleema Akbar et al
Format: Article
Language:English
Published: Rawalpindi Medical University 2018-06-01
Series:Journal of Rawalpindi Medical College
Online Access:https://www.journalrmc.com/index.php/JRMC/article/view/902
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spelling doaj-3b5b559f208440059eb0a02602c5836d2020-11-25T03:56:36ZengRawalpindi Medical UniversityJournal of Rawalpindi Medical College1683-35621683-35702018-06-0122Charcot–Marie–Tooth DiseaseHafiz Muhammad Noman, Haleema Akbar et al0Rawalpindi Medical University Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity.1 Clinical diagnosis is based on family history and characteristic findings on physical examination, EMG/NCV testing, and occasionally sural nerve biopsy. Molecular genetic testing is possible for some types of CMT.2 https://www.journalrmc.com/index.php/JRMC/article/view/902
collection DOAJ
language English
format Article
sources DOAJ
author Hafiz Muhammad Noman, Haleema Akbar et al
spellingShingle Hafiz Muhammad Noman, Haleema Akbar et al
Charcot–Marie–Tooth Disease
Journal of Rawalpindi Medical College
author_facet Hafiz Muhammad Noman, Haleema Akbar et al
author_sort Hafiz Muhammad Noman, Haleema Akbar et al
title Charcot–Marie–Tooth Disease
title_short Charcot–Marie–Tooth Disease
title_full Charcot–Marie–Tooth Disease
title_fullStr Charcot–Marie–Tooth Disease
title_full_unstemmed Charcot–Marie–Tooth Disease
title_sort charcot–marie–tooth disease
publisher Rawalpindi Medical University
series Journal of Rawalpindi Medical College
issn 1683-3562
1683-3570
publishDate 2018-06-01
description Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity.1 Clinical diagnosis is based on family history and characteristic findings on physical examination, EMG/NCV testing, and occasionally sural nerve biopsy. Molecular genetic testing is possible for some types of CMT.2
url https://www.journalrmc.com/index.php/JRMC/article/view/902
work_keys_str_mv AT hafizmuhammadnomanhaleemaakbaretal charcotmarietoothdisease
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