Results 21 to 30 of about 47,101 (300)

Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report. [PDF]

J Med Case Rep
Background Charcot–Marie–Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits ...
Mohammed S, Kifelew S, Tsehayneh F, Haile AT, Gebrehiwot EH.   +4 more
europepmc   +2 more sources

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

Hereditas, 2023
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern.
Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu   +6 more
doaj   +1 more source

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

Case Reports in Neurology, 2021
X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene.
Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite   +7 more
doaj   +1 more source

What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]

, 2018
Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
core   +1 more source

Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease [PDF]

, 2022
Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT).
Aldo Quattrone, Alessandro Bertini, Angelo Schenone, Anna Mazzeo, Chiara Pisciotta, Costanza Pazzaglia, Daniela Calabrese, Davide Pareyson, Fiore Manganelli, Gian Maria Fabrizi, Giuseppe Vita, Irene Tramacere, Isabella Allegri, Luca Gentile, Luca Padua, Lucio Santoro, Marina Grandis, Marta Bellofatto, Massimo Russo, null null, Paola Saveri, Paola Valentino, Stefano C. Previtali, Stefano Tozza, Sylvie Piacentini, Tiziana Cavallaro, Yuri Falzone   +26 more
core   +1 more source

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

BMC Medical Genetics, 2006
Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
Haas Gerhard, Hagedorn Michaela, Vorgerd Matthias, Engelfried Kathrin, Gilles Jürgen, Epplen Jörg T, Meins Moritz   +6 more
doaj   +1 more source

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients. [PDF]

PLoS ONE, 2017
The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A).
Wenjia Wang, Mickaël Guedj, Viviane Bertrand, Julie Foucquier, Elisabeth Jouve, Daniel Commenges, Cécile Proust-Lima, Niall P Murphy, Olivier Blin, Laurent Magy, Daniel Cohen, Shahram Attarian   +11 more
doaj   +1 more source

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

Case Reports in Medicine, 2022
This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical ...
Nivedita U. Jerath
doaj   +1 more source

Forecasting Disease Burden In Philippines: A Symbolic Regression Analysis [PDF]

arXiv, 2021
Burden of disease measures the impact of living with illness and injury and dying prematurely and it is increasing worldwide leading cause of death both global and national. This paper aimed to propose an index of diseases and evaluate a mathematical model to describe the number of burden of disease by cause in the Philippines from 1990 - 2016. Through
arxiv  

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +1 more source