Movement disorders in inborn errors of metabolism - version 1
Research type
Research Study
Full title
Movement disorders in four inborn errors of metabolism: a clinical study on the prevalence and impact on quality of life and daily functioning.
IRAS ID
172553
Contact name
Stephanie Grunewald
Contact email
Sponsor organisation
University Medical Center Groningen
Duration of Study in the UK
0 years, 3 months, 6 days
Research summary
In inborn errors of metabolism (IEM) the central nervous system is frequently involved. Next to more well-known neurological manifestations like epilepsy or psychomotor retardation, other neurological symptoms associated with IEM are movement disorders. Movement disorders are classified in several subtypes like dystonia, myoclonus, or ataxia. Recognition and correct classification of movement disorders is important for management and treatment choices.
However, despite the fact that the occurrence of movement disorders in IEM is mentioned in literature, the exact prevalence of the different subtypes and the severity of movement disorders remain largely uncertain. Also, it is unclear which factors contribute to the development of movement disorders, and why some patients do and others do not show these symptoms. Furthermore it is not yet established to what extent movement disorders influence on quality of life and daily functioning. In an earlier conducted pilot study we found a substantially lowered quality of life and level of functioning in patients with IEM and movement disorders; a more severe movement disorder was associated with a lower quality of life. We hypothesize movement disorders can cause substantial burden.
In this study we will systematically determine the presence of movement disorders in four different inborn errors of metabolism: galactosemia, glutaric aciduria type I, propionic aciduria and methylmalonic aciduria. All patients, with or without complaints of a movement disorder, will be invited to participate. The presence of movement disorders will be determined by a standardized videotaped neurological examination. In addition, the impact on quality of life and daily functioning will be assessed using a defined set of validated questionnaires.
With this study we hope to achieve more awareness for movement disorders in IEM. Better recognition can facilitate targeted and individualised therapies, leading to improved motor function and possibly subsequent overall quality of life.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
16/SC/0134
Date of REC Opinion
14 Jun 2016
REC opinion
Further Information Favourable Opinion