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PMID: 42531151 Published · ppublish English

The Clinical, Genetic, Psychosocial, and Care Landscape of X-Linked Dystonia-Parkinsonism in Filipino Men: A Scoping Review.

Ramos MD, Manning J, Harris J, Adorno M, Marye R, Evangelista L

Abstract

BackgroundX-linked dystonia-parkinsonism (XDP) is a hereditary movement disorder predominantly affecting Filipino males from Panay Island ancestry. Existing research emphasizes molecular and motor aspects, neglecting diagnostic, therapeutic, and psychosocial impacts.ObjectivesTo map the literature on XDP in Filipino men, including its genetic basis, clinical features, diagnostic methods, treatment options, and psychosocial effects.MethodsWe conducted a systematic search following the Joanna Briggs Institute (JBI) methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) principles.ResultsA total of 27 studies were included. Symptoms commenced from localized to widespread dystonia. Parkinsonism manifested within one to two years. Most examined patients exhibited the TAF1 genetic mutation, and diagnosis takes years. Deep-brain stimulation reduced dystonia severity. Pharmacological therapies produced some benefits. Qualitative analysis revealed stigma and identity loss, caregiver burden, financial hardship, and coping and resilience.ConclusionsXDP exhibits a rapid and severe growth trend; however, access to diagnostic tests, modern medicines, and supportive care remains unequal. To address these disparities, it is essential to improve access to genetic and clinical treatments and incorporate psychosocial support systems, including stigma reduction, caregiver assistance, and community networks, into a comprehensive care model.

Keywords
Filipino men Philippines X-linked dystonia-parkinsonism XDP caregiving deep brain stimulation neurogenetics psychosocial burden rare disease scoping review
Article Info
Journal
American journal of men's health
Abbr.
Am J Mens Health
ISSN
1557-9891
Language
English
Country/Region
United States
NLM ID
101287723
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