Ontology highlight
ABSTRACT:
SUBMITTER: van Karnebeek C
PROVIDER: S-EPMC4270865 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
van Karnebeek Clara C Horvath Gabriella G Murphy Tyler T Purtzki Jacqueline J Bowden Kristin K Sirrs Sandra S Honey Christopher R CR Stockler Sylvia S
JIMD reports 20140410
Deep brain stimulation (DBS) has been used to treat secondary dystonias caused by inborn errors of metabolism with varying degrees of effectiveness. Here we report for the first time the application of DBS as treatment for secondary dystonia in a 22-year-old male with X-linked adrenoleukodystrophy (X-ALD). The disease manifested at age 6 with ADHD, tics, and dystonic gait, and deteriorated to loss of ambulation by age 11, and speech difficulties, seizures, and characteristic adrenal insufficienc ...[more]