Orpha Number: 401964 Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present [rarediseases.info.nih.gov]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

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]

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]

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