Autosomal Recessive Spastic Paraplegia Type 5A (Autosomal Recessive Spastic Paraplegia 5A): Symptoms, Diagnosis and Treatment

Autosomal Recessive Spastic Paraplegia 5A

Presentation

Neurologic

Spastic Paraplegia

Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy X,XR,XD,G 99.98 NA of NA [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]