ReviewMovement disorders : official journal of the Movement Disorder Society2018
Treatable inherited rare movement disorders.
Review in Movement disorders : official journal of the Movement Disorder Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 99 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Diagnostic approach to paediatric movement disorders: a clinical practice guide.Developmental medicine and child neurology · 2021Guideline
- Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.Metabolites · 2026Review
- Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.International journal of molecular sciences · 2025Article
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Describing Clinical Features of Movement Disorders for Effective Research Reporting.Movement disorders clinical practice · 2024Article
- The Effect of Nutrients on Neurological Disorders.Nutrients · 2024Article
- Diet and Nutrients in Rare Neurological Disorders: Biological, Biochemical, and Pathophysiological Evidence.Nutrients · 2024Review
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- Review
- Mechanisms underlying phenotypic variation in neurogenetic disorders.Nature reviews. Neurology · 2023Review
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases.Medicina (Kaunas, Lithuania) · 2023Article
- DYT-Frontiers in neuroscience · 2023Review
- Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a HomozygousFrontiers in genetics · 2022Article
- Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early-Onset Parkinsonism.Movement disorders clinical practice · 2021Article
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.Genes · 2021Article
- Dystonia updates: definition, nomenclature, clinical classification, and etiology.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- The importance of genetic testing for dystonia patients and translational research.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 20 institutions in 17 countries.
Funding
Abstract
There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.