Presentation
Neurologic
- Tremor
For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). [medlineplus.gov]
Myopathy- Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]
Treatment
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
Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [medlineplus.gov]