Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Rattachement africain : lv, pk. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Background and Objectives: Genetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs is 3.7-4.99 per 10,000. This number varies greatly in the selected populations after applying population-wide studies. The aim of this study was to evaluate the effect of genetic analysis as the first-tier test in patients with NMD and to calculate the disease prevalence and allelic frequencies for reoccurring genetic variants. Methods: Patients with NMD from Latvia with molecular tests confirming their diagnosis in 2008-2020 were included in this retrospective study. Results: Diagnosis was confirmed in 153 unique cases of all persons tested. Next-generation sequencing resulted in a detection rate of 37%. Two of the most common childhood-onset NMDs in our population were spinal muscular atrophy and dystrophinopathies, with a birth prevalence of 1.01 per 10,000 newborns and 2.08 per 10,000 (male newborn population), respectively. The calculated point prevalence was 0.079 per 10,000 for facioscapulohumeral muscular dystrophy type 1, 0.078 per 10,000 for limb-girdle muscular dystrophy, 0.073 per 10,000 for nondystrophic congenital myotonia, 0.052 per 10,000 for spinobulbar muscular atrophy, and 0.047 per 10,000 for type 1 myotonic dystrophy. Discussion: gene variant c.2680C>T p.(Arg894Ter) is 2.11%, and consequently, congenital myotonia is the most frequent NMD in our population.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
- Date Crossref
- 01/06/2022
- Éditeur
- Ovid Technologies (Wolters Kluwer Health)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Latvian Biomedical Research and Study Centre pays non établi dans la noticeStructure de recherche
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Riga East University Hospital pays non établi dans la noticeÉtablissement de santé
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Children's Clinical University Hospital From the Medical Genetics Clinic (B.L. pays non établi dans la noticeÉtablissement de santé
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Riga Stradiņš University Scientific Laboratory of Molecular Genetics (L.G.) pays non établi dans la noticeUniversité ou école supérieure
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Sobhraj Maternity Hospital pays non établi dans la noticeÉtablissement de santé
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Genera Ltd (I.R.-S. pays non établi dans la noticeEntreprise
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Riga East Clinical University Hospital Rare Disease Centre (V.K.) pays non établi dans la noticeUniversité ou école supérieure
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Riga Maternity Hospital (L.K.) pays non établi dans la noticeÉtablissement de santé
Latvian Biomedical Research and Study Centre, Riga East University Hospital et From the Medical Genetics Clinic (B.L. — Children's Clinical University Hospital, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.