Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.

ABSTRACT:

Background

About 80% of monogenic metabolic diseases causing movement disorders (MDs) emerges during the first 2 decades of life, and a number of these conditions offers the opportunity of a disease-modifying treatment. The implementation of enlarged neonatal screening programs and the impressive rapid increase of the identification of new conditions are enhancing our potential to recognize and treat several diseases causing MDs, changing their outcome and phenotypic spectrum.

Methods and findings

A literature review of monogenic disorders causing MDs amenable to treatment was conducted focusing on early clinical signs and diagnostic biomarkers. A classification in 3 broad categories based on the therapeutic approach has been proposed. Some disorders result in irreversible n

SUBMITTER: Galosi S 

PROVIDER: S-EPMC7011670 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature