The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

ABSTRACT:

Background

Movement disorders are a significant clinical problem in lysosomal storage diseases (LSD) and account for substantial morbidity. The spectrum of movement disorders in childhood-onset LSD, however, remains poorly defined.

Objectives

To define the spectrum of movement disorders in a well-characterized cohort of children with LSD.

Methods

A retrospective chart review at a single tertiary care center (Boston Children's Hospital, Boston, MA, USA). Patients up to the age of 18 years with a clinical, genetic and/or biochemical diagnosis of an LSD and at least one predefined movement disorder (parkinsonism, dystonia, ataxia, tremor, chorea, myoclonus, ballism, restless leg syndrome) were included.

Results

96 patients were identified and 76 patients had a suf

SUBMITTER: Ebrahimi-Fakhari D 

PROVIDER: S-EPMC6005694 | biostudies-literature | 2018 Mar-Apr

REPOSITORIES: biostudies-literature