exudates and Myotonic-Dystrophy

The lack of epidemiological data and molecular diagnostic services in Malaysia has hampered the setting-up of a comprehensive management plan for patients with myotonic dystrophy type 1 (DM1), leading to delayed diagnosis, treatment and support for patients and families. The aim of this study was to estimate the prevalence of DM1 in the 3 major ethnic groups in Malaysia and evaluate the feasibility of a single tube triplet-primed PCR (TP-PCR) method for diagnosis of DM1 in Malaysia.. We used PCR to determine the size of CTG repeats in 377 individuals not known to be affected by DM and 11 DM1 suspected patients, recruited from a tertiary hospital in Kuala Lumpur. TP-PCR was performed on selected samples, followed by Southern blot hybridisation of PCR amplified fragments to confirm and estimate the size of CTG expansion.. The number of individuals not known to be affected by DM with (CTG). Of the 754 chromosomes studied, (CTG). The results show a low DM1 prevalence in Malaysia with the possibility of underdiagnosis and demonstrates the feasibility of using a clinical and TP-PCR-based approach for rapid and cost-effective DM1 diagnosis in developing countries.

Topics: Adult; Asian People; Blotting, Southern; Child, Preschool; China; Ethnicity; Female; Humans; India; Malaysia; Male; Middle Aged; Molecular Diagnostic Techniques; Myotonic Dystrophy; Myotonin-Protein Kinase; Polymerase Chain Reaction; Prevalence; Trinucleotide Repeats; White People