A case of treatable encephalopathy, developmental regression, and proximal tremor

Autor:	Mariam Hull, Lisa Emrick, Roa Sadat, Mered Parnes
Rok vydání:	2021
Předmět:	Levodopa Male Brain Diseases Treatment Outcome Neurology Dystonic Disorders Developmental Disabilities Tremor Humans Infant Neurology (clinical) Geriatrics and Gerontology
Zdroj:	Parkinsonism & Related Disorders. 93:111-113
ISSN:	1353-8020
DOI:	10.1016/j.parkreldis.2021.04.020
Popis:	Tyrosine hydroxylase (TH) deficiency is an autosomal recessive condition first described as a progressive, early-onset hypokinetic-rigid and dystonic syndrome that was responsive to levodopa. Here we present a child with developmental regression, proximal tremor, and encephalopathy found to have tyrosine hydroxylase deficiency in whom treatment resulted in acquisition of developmental milestones.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1baa82855055eaa296a23801cf2dd1da https://doi.org/10.1016/j.parkreldis.2021.04.020 Zobrazit plný text záznamu Full Text from ScienceDirect