Results 41 to 50 of about 47,101 (300)
Charcot Marie Tooth Disease Type 1 - Rare but Commonest Hereditary Neuropathy [PDF]
Al Ameen Journal of Medical Sciences, 2012 Objective: To present a case of Charcot Marie Tooth Disease. Backgrounds: A 22 years old boy presented with very slowly progressive symmetrical weakness of both lower limbs with distal muscular atrophy.
Shakya Bhattacharjee +1 more
doaj
A study of physical activity comparing people with Charcot Marie Tooth disease to normal control subjects [PDF]
, 2016 PURPOSE: Charcot Marie Tooth disease (CMT) describes a group of hereditary neuropathies that present with distal weakness, wasting and sensory loss. Small studies indicate that people with CMT have reduced daily activity levels.
Dewar, Elizabeth +9 more
core +1 more source
Physiotherapy of Charcot–Marie–Tooth disease
Нервно-мышечные болезни, 2015 In the article there is a review the latest achievements in the field of physiotherapy Charcot–Marie–Tooth disease (CMT). Describes some of the techniques non-pharmacological treatment, the goal of physiotherapy application depending on the pathogenesis,
N. A. Shnayder, S. I. Goncharova
doaj +1 more source
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease [PDF]
, 2015 [EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2).
Chumillas, María J. +12 more
core +1 more source
Common human diseases prediction using machine learning based on survey data [PDF]
arXiv, 2022 In this era, the moment has arrived to move away from disease as the primary emphasis of medical treatment. Although impressive, the multiple techniques that have been developed to detect the diseases. In this time, there are some types of diseases COVID-19, normal flue, migraine, lung disease, heart disease, kidney disease, diabetics, stomach disease,
arxiv
Cell Reports, 2017 Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction.
Kathryn H. Morelli +6 more
doaj +1 more source
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination [PDF]
, 2017 Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy.
Bock, Thomas +9 more
core
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano +15 more
wiley +1 more source
Нервно-мышечные болезни, 2015 Charcot–Marie–Tooth hereditary neuropathy (Charcot–Marie–Tooth disease, CMT) is the most common form of hereditary neuropathies, accompanied by sensory disorders, progressive muscle weakness with the formation of disabling contractures of the limbs ...
N. A. Shnayder, S. I. Goncharova
doaj +1 more source
Sleep Science, 2022 Introduction: Chronic pain, nocturnal cramps, and sleep alterations are prevalent symptoms and signals in Charcot-Marie-Tooth disease patients. Sleep and pain are bidirectionally related and physical therapy can improve the binomial sleep and pain ...
Cynthia Coelho Souza +7 more
doaj +1 more source