Results 31 to 40 of about 6,888,845 (215)
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
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Intermediate Charcot-Marie-Tooth disease [PDF]
Neuroscience Bulletin, 2014 Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very slow motor nerve conduction velocity (MNCV) (45 m/s).
Lei, Liu, Ruxu, Zhang
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Surgical Treatment of Foot Deformity in Charcot Marie Tooth Syndrome [PDF]
Zagazig University Medical JournalBackground: Foot deformities were regularly seen in patients with Charcot Marie tooth disease (CMT), also, orthopedic surgery frequently needed. Right now there was no proof based on guideline for surgery treatment and a small researches studied the long-
Anwar Alzarga +3 more
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Peripheral neuropathies of childhood [PDF]
, 2009 Includes synopsis.Incldues bibliographical references (p. 195-220).Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De ...
Wilmshurst, Jo
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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
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Communications Biology, 2022 GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf +22 more
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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
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X-linked Charcot-Marie-Tooth Disease [PDF]
Journal of the Peripheral Nervous System, 2005 AbstractThe X‐linked form of Charcot‐Marie‐Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
Scherer, Steven S., Kleopa, Kleopas A.
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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
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Anaesthesia and Charcot-Marie-Tooth Disease [PDF]
, 2016 Charcot-Marie-Tooth disease is named after three neurologists. Charcot and Marie first described this unusual slowly progressive hereditary motor and sensory neuropathy in France in 18861 .
Bösenberg, A, Larkin, K
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