Presentation
O objetivo do presente trabalho é realizar uma revisão de literatura a respeito dos principais tipos de CMT4 (variantes desmielinizantes autossômicas recessivas de CMT). Método. [periodicos.unifesp.br]
Risk of bias in included studies Figure 2 presents a summary of the 'Risk of bias' assessments of the included studies by the review authors. [cochranelibrary.com]
Entire Body System
- Disability
Secondary outcomes at 12 months Change in disability on a validated scale No validated disability scales were used. [cochranelibrary.com]
Please enable JS and disable any ad blocker [cairn.info]
Neuropathy- Arthrogryposis Syndrome AR 100 2 of 2 ADGRG6 Lethal Congenital Contracture Syndrome AR 99.91 NA of NA AGRN Congential Myasthenic Syndrome AR 99.71 18 of 18 AIMP1 Hypomyelinating Leukodystrophy, Autosomal Recessive Non-Syndromic Intellectual Disability [igenomix.es]
Musculoskeletal
- Muscle Weakness
weakness and atrophy (in particular of the peroneal group) SNOMEDCT-BE (disorder) / 763400005 SNOMEDCT-BE (in particular of the peroneal group) / 763400005 maladie de Charcot-Marie-Tooth autosomique dominante type 2N Autosomal dominant Charcot-Marie-Tooth [wordscope.com]
Neurologic
- Paresis
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008;131(Pt 11):3051-61. Crimella C, Tonelli A, Airoldi G, Baschirotto C, D’Angelo MG, Bonato S, et al. [periodicos.unifesp.br]
Primary loss of the myelin sheath, called demyelination, leads to secondary axonal degeneration, resulting in muscular atrophy and paresis (Krajewski 2000; Martini 2001). [cochranelibrary.com]
Treatment
We assessed treatment effects by meta‐analysis of data using forest plots. We determined the overall treatment effect by the Z‐score. We considered a significance level of P < 0.05 as the threshold for statistically significant treatment effects. [cochranelibrary.com]
Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]
Etiology
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]
Epidemiology
An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology 2002;21:246-50. http://dx.doi.org/10.1159/000065643 Charcot JM. [periodicos.unifesp.br]
Pathophysiology
Pathophysiology The pathophysiological mechanisms that lead to the clinical phenotype are still unclear for many of the genes implicated in CMT. [cochranelibrary.com]