Evidence map›Paper›PMID 36381256›Full record

ArticleNeurology. Genetics2022

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis, Inese Kazaine, Gita Taurina, Daiga Murmane, Ieva Grinfelde, Liene Kornejeva and 10 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 34% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 8 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 2 institutions in 2 countries.

Baiba LaceMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.ORCID https://orcid.org/0000-0001-5371-6756
Ieva MiculeMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Viktorija KeninaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Signe SetlereMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Jurgis StrautmanisMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Inese KazaineMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Gita TaurinaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Daiga MurmaneMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Ieva GrinfeldeMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Liene KornejevaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Zita KruminaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Olga SternaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Ilze Radovica-SpalvinaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Inta VasiljevaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Linda GailiteMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Janis StavusisMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Diana LivcaneMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Dita KidereMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Ieva MalnieceMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Inna InashkinaMedical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Latvian Biomedical Research and Study Centre · LVChildren's Clinical University Hospital · LV

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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: DNA diagnostics is a successful approach. The carrier frequencies of the common

Identifiers

PMID36381256
PMCPMC9641966
OpenAlexW4281399213

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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.