Novel Drug Eases Charcot-Marie-Tooth Disability in Phase 3 Trial Novel Drug Eases Charcot-Marie-Tooth Disability in Phase 3 Trial

A novel, fixed-dose, three-drug combination therapy has provided"first evidence of meaningful improvement" in patients with Charcot-Marie-Tooth Type 1A disease in a new phase 3 trial.Medscape Medical News
Source: Medscape Neurology and Neurosurgery Headlines - Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news

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Abstract BACKGROUND: Gait analysis is a reliable tool to characterise ambulation in Charcot-Marie-Tooth, the obtained are complex data makes its use scarce in clinical practice. The use of synthetic measures may enable the clinician to easily interpret gait kinematics in Charcot-Marie-Tooth. AIMS: To test the usefulness of Gait Profile Score as a method to quantify and monitor kinematic gait alterations in Charcot-Marie-Tooth. METHODS: A group of patients with Charcot-Marie-Tooth and a control group underwent Gait Analysis. Neurological impairment was evaluated by means of the Charcot Marie Tooth neuropa...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
We report two Sri Lankan sisters born to consanguineous parents and presenting with a severe axonal sensorimotor neuropathy. The early onset of the disease, the distal and proximal weakness and atrophy leading to major disability, along with areflexia, and, most notably, vocal cord and diaphragm paralysis were highly evocative of aGDAP1-related CMT. However, sequencing of the coding regions of the gene was normal. Whole-exome sequencing (WES) was performed and revealed that the largest region of homozygosity was aroundGDAP1 with several variants, mostly in non-coding regions. In view of the high clinical suspicion ofGDAP1 ...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary motor and sensory neuropathies that can be transmitted through all forms of Mendelian inheritance (Szigeti and Lupski, 2009). It is the most frequent inherited neuropathy with a prevalence of 1:2,500 people (Barreto et al., 2016; Kocha ński, 2005; Patzkó and Shy, 2011). The initial pathological process induces either demyelination or axonal dysfunction, but in both cases, disability correlates with the extent of axonal loss (Krajewski et al., 2000).
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Source Type: research
We report two Sri Lankan sisters born to consanguineous parents and presenting with a severe axonal sensorimotor neuropathy. The early onset of the disease, the distal and proximal weakness and atrophy leading to major disability, along with areflexia, and, most notably, vocal cord and diaphragm paralysis were highly evocative of aGDAP1-related CMT. However, sequencing of the coding regions of the gene was normal. Whole-exome sequencing (WES) was performed and revealed that the largest region of homozygosity was aroundGDAP1 with several variants, mostly in non-coding regions. In view of the high clinical suspicion ofGDAP1 ...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 21 December 2017 Source:Stem Cell Reports Author(s): Lei Shi, Lihua Huang, Ruojie He, Weijun Huang, Huiyan Wang, Xingqiang Lai, Zhengwei Zou, Jiaqi Sun, Qiong Ke, Minying Zheng, Xilin Lu, Zhong Pei, Huanxing Su, Andy Peng Xiang, Weiqiang Li, Xiaoli Yao Charcot-Marie-Tooth disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent s...
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
CONCLUSION: A brief checklist to disclose long-standing signs of peripheral neuropathy could be helpful to detect patients with undiagnosed hereditary neuropathies who could be at risk of developing severe irreversible neurotoxicity following the administration of neurotoxic agents. PMID: 29243538 [PubMed - as supplied by publisher]
Source: Acta Oncologica - Category: Cancer & Oncology Authors: Tags: Acta Oncol Source Type: research
CONCLUSION: Our study seems to suggest that assessing of body composition could assist with monitoring of disease progression in people with Charcot-Marie Tooth; however these findings need to be substantiated in a larger cohort. Implications for Rehabilitation Higher lean body mass and lower fat mass of the legs is associated with better physical performances in people with Charcot-Marie-Tooth disease. Lower fat mass is related to greater quality of life and reduced clinical symptoms in people with Charcot-Marie-Tooth disease. Optimising favorable body composition profiles (higher lean body mass and lower fat mass) in peo...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Abstract BACKGROUND: The 9-hole peg test (9-HPT) and 10-meter walk test (10-MWT) are commonly used to test finger motor function and walking ability. The aim of this present study was to investigate the efficacy of these tests for evaluating functional loss in Chinese Charcot-Marie-Tooth (CMT) disease. METHODS: Thirty-four Chinese CMT patients (CMT group) from August 2015 to December 2016 were evaluated with 9-HPT, 10-MWT, CMT disease examination score, overall neuropathy limitation scale (ONLS), functional disability score, and Berg Balance Scale (BBS). Thirty-five age- and gender-matched healthy controls (c...
Source: Chinese Medical Journal - Category: General Medicine Authors: Tags: Chin Med J (Engl) Source Type: research
Abstract BACKGROUND: Preliminary studies have supported the utility of exercise as a treatment for Charcot-Marie-Tooth disease (CMT) patients. Despite being the most common inherited neuropathy, there remains a paucity of guidelines for CMT management. METHODS: A retrospective chart review was performed on 297 CMT patients. Self-reported exercise and strength results from standardized dynamometer testing were obtained from adult patients' first visits. Values were converted and analyzed based on previously reported age- and sex-matched normative values. RESULTS: Participants with CMT2 had greater strengt...
Source: The Canadian Journal of Neurological Sciences - Category: Neurology Authors: Tags: Can J Neurol Sci Source Type: research
Conclusion Jumping mechanography is a good additional tool for the assessment of pediatric patients with Charcot-Marie-Tooth disease and might be used for primary outcome measures. It was not feasible in more advanced stages of the disease. In less disabled children, the S2LJ, which quantifies force generated by proximal and distal muscles, might be superior to other tests. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Original Article Source Type: research
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