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Charcot-Marie-Tooth Disease Type 1
Hereditary Motor and Sensory Neuropathy Type 1

Presentation

Diaphragmatic dysfunction in neuralgic amyotrophy: an electrophysiologic evaluation of 16 patients presenting with dyspnea. Am Rev Respir Dis. 1993;147(1):66-71. Davis J, Goldman M, Loh L, Casson M. Diaphragm function and alveolar hypoventilation. [revista.ajrpt.com]

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]

Musculoskeletal

  • Fracture

    98.37 4 of 4 ALG14 Congenital Myasthenic Syndrome AR 99.99 7 of 7 ALG2 Congenital Disorder Of Glycosylation Type II AR 99.61 7 of 7 ALG3 Congenital Disorder Of Glycosylation Type Id AR 99.2 25 of 25 ASCC1 Spinal Muscular Atrophy With Congenital Bone Fractures [igenomix.es]

Neurologic

  • Ataxia

    AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia [igenomix.es]

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]

Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand Suppl. 2012;(193):iv-22. [revista.ajrpt.com]

Pathophysiology

Pathophysiology The pathophysiological mechanisms that lead to the clinical phenotype are still unclear for many of the genes implicated in CMT. [cochranelibrary.com]

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