The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Clinical presentation of pediatric multiple sclerosis before puberty. Eur J Neurol 2014 Mar;21(3):441-446. doi: 10.1111/ene.12327. [ Links ] 88. Waldman A, Ness J, Pohl D, et al. Pediatric multiple sclerosis. Clinical features and outcome. [scielo.org.mx]

Conventional first-line treatment and general management. Neurology 2016;87(Suppl 2):S97-S102. doi: 10.1212/WNL.0000000000002823. [ Links ] 98. Tenembaum SN 2013. Treatment of multiple sclerosis and neuromielitis optica in children and adolescents. [scielo.org.mx]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis The course of the disease is progressive. Longitudinal data are insufficient to determine the life expectancy and the real amplitude of the phenotypic spectrum. [orpha.net]

Etiology The syndrome is caused by homozygous variants or compound-heterozygous variants in the TRAPPC12 gene (2p25.3). [orpha.net]

Summary Epidemiology Currently only five affected individuals from four unrelated families (three consanguineous and one non-consanguineous) have been reported in the literature. [orpha.net]