ArticlePloS one2020
Rare disease in Malaysia: Challenges and solutions.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Expert Consensus and Clinical Pathway Recommendations for Transthyretin Amyloid Cardiomyopathy in Malaysia.International journal of heart failure · 2026Review
- The long road to a rare diagnosis: A Malaysian case of childhood-onset progressive myoclonus, ataxia, and retinal dystrophy with biopsy features suggestive of mitochondrial dysfunction.The Journal of international medical research · 2026Article
- Screening and Stratification Utility of GDF-15 and FGF-21 in Individuals Evaluated for Suspected Mitochondrial Disease: A Malaysian Cohort Study.Metabolites · 2026Article
- Rare diseases in children-Knowledge, experiences and challenges faced by pediatricians in Tanzania.PLOS global public health · 2026Article
- Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study.BMC medical education · 2025Article
- Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study.International journal of technology assessment in health care · 2024Article
- Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics.Journal of community genetics · 2024Article
- Development of an multicriteria decision analysis framework for rare disease reimbursement prioritization in Malaysia.International journal of technology assessment in health care · 2024Article
- The epidemiology and healthcare burden of rare diseases requiring hospitalisation among adult patients in Langkawi, Malaysia: Insights from a pilot study.Intractable & rare diseases research · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.Pediatric investigation · 2024Review
- Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.PloS one · 2024Article
- Surgical treatment of rare peripheral nerve lesions: long-term outcomes and quality of life.Frontiers in oncology · 2024Article
- Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens.Journal of personalized medicine · 2023Article
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- Knowledge and perception of inborn errors of metabolism (IEMs) among healthcare students at a selected public university in Klang Valley, Malaysia.Intractable & rare diseases research · 2022Article
- Screening of Patient Impairments in an Outpatient Clinic for Suspected Rare Diseases-A Cross-Sectional Study.International journal of environmental research and public health · 2022Article
- Article
- A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectives.Orphanet journal of rare diseases · 2022Article
- Financing of Rare Diseases and Orphan Drugs in A Sanctioned Country: A Qualitative Study.Medical journal of the Islamic Republic of Iran · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveRare diseases are often underdiagnosed, and their management is frequently complicated by a lack of access to treatment and information about the diseases. To allow for better policy planning, we sought to examine the current status of managing rare diseases in Malaysia.
methodsThis study was conducted in two phases. In the first phase, we triangulated information from reviews of journal publications, documents from the Malaysian government and in-depth interviews among selected key healthcare stakeholders in Malaysia. The second phase was designed as a cross-sectional survey to estimate the number of cases and treatment coverage for rare diseases in Malaysia.
resultsMalaysia has no official definition of rare disease yet but currently in the process of reviewing them for Malaysia. There are 13 rare disease specialists and a dozen medical doctors in genetic clinics around Malaysia, mainly in public health facilities. From the survey, 1,249 patients were diagnosed with rare diseases in public hospitals. Only 60% received their medications or supplements, and the rest continued with symptomatic treatment.
conclusionGenerally, Malaysia has made significant progress in the management of rare diseases, but there are still opportunities for development in critical areas. Ultimately, if all healthcare providers, government, society, and politicians work together to manage rare diseases, we will see an improvement in patient outcomes.
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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.