نتایج جستجو برای: cmt1a
تعداد نتایج: 183 فیلتر نتایج به سال:
Background Leg muscle cramps have been identified as the strongest independent predictor of worse quality of life in Australian children with Charcot-Marie-Tooth disease Type 1A (CMT1A). There is no accepted treatment for cramp in children with CMT and the cause of cramp is not well understood. Potential therapeutic targets should be carefully identified to direct clinical trials of interventions.
BACKGROUND Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 (PMP22), a model of Charcot-Marie-Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in ...
X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene. In this study we report the clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with CMTX. Age at onset was 15.4 +/- 9.6 years in males (range 1-40 years) and 18.7 +/- 13.1 years in females (ra...
Contributors RSR contributed to the design of the study, reviewed the data, drafted the manuscript and provided final approval for submission. CL contributed to the design of the study, reviewed the data, performed the statistical analysis, drafted the manuscript and provided final approval for submission. J-PB contributed to the design of the study, reviewed the data, drafted the manuscript an...
Background Leg muscle cramps have been identified as the strongest independent predictor of worse quality of life in Australian children with Charcot-Marie-Tooth disease Type 1A (CMT1A) [1]. There is no accepted treatment for cramp in children with CMT and the cause of cramp is not well understood. Potential therapeutic targets should be carefully identified to direct clinical trials of interve...
Some neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and Parkinson’s disease (PD), characteristically present with asymmetrical symptoms, and previous studies have shown that there is concordance for side of onset and handedness. 2 Separately, the markedly higher incidence of ALS has been reported in athletes, particularly in professional soccer players in Italy, and Ame...
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