Presentation
Respiratoric
- Respiratory Insufficiency
Insufficiency, And Dysmorphic Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental [igenomix.es]
Musculoskeletal
- Myopathy
With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [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]