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Tremor and Other Hyperkinetic Movements... 2023Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this... (Review)
Review
BACKGROUND
Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.
METHODS
A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.
RESULTS
The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.
DISCUSSION
This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.
Topics: Humans; Chorea; Athetosis; Metabolism, Inborn Errors; Movement Disorders; Dyskinesias
PubMed: 37810989
DOI: 10.5334/tohm.801 -
Neurology. Clinical Practice Dec 2023The objective of this study was to explore the clinical spectrum of movement disorders and associated neurologic findings in hypomagnesemia and challenges in diagnosis... (Review)
Review
PURPOSE OF REVIEW
The objective of this study was to explore the clinical spectrum of movement disorders and associated neurologic findings in hypomagnesemia and challenges in diagnosis and treatment.
RECENT FINDINGS
Sixty patients were identified in the literature for analysis. Movement disorders observed were postural tremor (23.3%, n = 14), resting tremor (8.3%, n = 5), intention tremor (10%, n = 6), ataxia involving the trunk (48.3%, n = 29) or limbs (25%, n = 15) and dysarthria (21.7%, n = 13), athetosis (8.3%, n = 5), myoclonus (6.7%, n = 4), and chorea (1.8%, n = 1). Symptoms may be accompanied by downbeat nystagmus, tetany, drowsiness, vertigo, and proximal muscle weakness. Residual deficits were noted in 16 (26.67%) patients. Serum magnesium was 1.3 mg/dL or lower in 53 patients (88.3%). Imaging findings include bilateral cerebellar (20%, n = 11) and vermis hyperintensities (9.09%, n = 5) and normal imaging. Proton pump inhibitors are the commonest etiology.
SUMMARY
The movement disorders linked with hypomagnesemia can be associated with varied neurologic symptoms. A high degree of suspicion will enable early diagnosis to prevent residual deficits.
PubMed: 37795503
DOI: 10.1212/CPJ.0000000000200202