Autosomal Dominant Spastic Paraplegia Type 3 (Autosomal Dominant Spastic Paraplegia 3): Symptoms, Diagnosis and Treatment

Autosomal Dominant Spastic Paraplegia 3

Presentation

Entire Body System

Epilepsy

Deficiency – 99.96 2 of 2 SLC18A3 Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence AR 99.97 5 of 5 SLC25A1 Congenital Myasthenic Syndrome AR 90 23 of 25 SLC35A3 Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum Disorder- Epilepsy-Arthrogryposis [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 Request Information [igenomix.es]