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Early-Onset Progressive Encephalopathy with Brain Atrophy and Spasticity

Presentation

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]

Treatment

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

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

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

Epidemiology

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]

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