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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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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Diagnosis of Charcot‐Marie‐Tooth Disease [PDF]
BioMed Research International, 2009 Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission.
Banchs, Isabel +7 more
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Comparison of the effect of existential therapy and acceptance and commitment therapy on death anxiety, peak experiences and mental health of patients with charcot marie tooth [PDF]
مجله علوم روانشناختی, 2023 Background: Charcot Marie Tooth (CMT) is a genetic disease in which peripheral nerves are damaged, also known as hereditary sensory and motor neuropathy.
seyedeh asghar faghani tolon +2 more
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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 +6 more
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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
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Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]
, 2020 Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib +3 more
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MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study [PDF]
, 2015 BACKGROUND: A substantial impediment to progress in trials of new therapies in neuromuscular disorders is the absence of responsive outcome measures that correlate with patient functional deficits and are sensitive to early disease processes ...
Fischmann, A +7 more
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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 +11 more
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Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
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