TY - JOUR
T1 - Population-based incidence rates of 15 neuromuscular disorders
T2 - a nationwide capture-recapture study in the Netherlands
AU - Deenen, Johanna C.W.
AU - Horlings, Corinne G.C.
AU - Voermans, Nicol C.
AU - van Doorn, Pieter A.
AU - Faber, Catharina G.
AU - van der Kooi, Anneke J.
AU - Kuks, Jan B.M.
AU - Notermans, Nicolette C.
AU - Visser, Leo H.
AU - Broekgaarden, Ria H.A.
AU - Horemans, Anja M.C.
AU - Verschuuren, Jan J.G.M.
AU - Verbeek, André L.M.
AU - van Engelen, Baziel G.M.
N1 - Funding Information:
This study was funded by a competitively awarded, peer-reviewed grant from the Dutch Neuromuscular Fund (Prinses Beatrix Spierfonds, W.OR09-21), and was supported by the Spieren voor Spieren Initiative. The funding sources had no involvement in the study design, the collection, analysis and interpretation of the data; in the writing of the report; and in the decision to submit the article for publication. The authors wish to thank Dr. Dankmar B\u00F6hning for his teaching course, explanations of the capture-recapture method and the use of the Chao's estimator, Wim Lemmens for his help in writing the SAS syntax to match available data, Nienke de Goeijen and all others not named here for their efforts to improve and complete the datasets. Several authors of this publication are members of the Netherlands Neuromuscular Center NL-NMD and the European Reference Network for Rare Neuromuscular Diseases EURO-NMD.
Funding Information:
This study was funded by a competitively awarded, peer-reviewed grant from the Dutch Neuromuscular Fund (Prinses Beatrix Spierfonds, W.OR09-21), and was supported by the Spieren voor Spieren Initiative. The funding sources had no involvement in the study design, the collection, analysis and interpretation of the data; in the writing of the report; and in the decision to submit the article for publication.
Publisher Copyright:
© 2024 The Author(s)
PY - 2024/9/1
Y1 - 2024/9/1
N2 - Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach to a nationwide hospital-based dataset and a patients association-based dataset to estimate the annual incidence rates for fifteen neuromuscular disorders in the Netherlands. The annual incidence rates per 100,000 population varied from 0.03/100,000 (95% CI 0.00 - 0.06) for glycogenosis type 5 to 0.9/100,000 (95% confidence interval 0.7 - 1.0) for myotonic dystrophy type 1. The summed annual incidence rate of these disorders was 4.1 per 100,000 per population. Nine of the provided incidence rates were previously unavailable, three rates were similar to the rates in the literature, and three rates were generally higher compared to previous findings but with overlapping confidence intervals. This study provides nationwide incidence rates for fifteen neuromuscular disorders predominantly diagnosed in adult life, nine which were previously unavailable. The capture-recapture approach provided estimates of the total number of individuals with neuromuscular disorders. To complete the gaps in the knowledge of disease frequencies, there is a need for estimates from an automated, obligatory data collection system of diagnosed and newly diagnosed patients with neuromuscular disorders.
AB - Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach to a nationwide hospital-based dataset and a patients association-based dataset to estimate the annual incidence rates for fifteen neuromuscular disorders in the Netherlands. The annual incidence rates per 100,000 population varied from 0.03/100,000 (95% CI 0.00 - 0.06) for glycogenosis type 5 to 0.9/100,000 (95% confidence interval 0.7 - 1.0) for myotonic dystrophy type 1. The summed annual incidence rate of these disorders was 4.1 per 100,000 per population. Nine of the provided incidence rates were previously unavailable, three rates were similar to the rates in the literature, and three rates were generally higher compared to previous findings but with overlapping confidence intervals. This study provides nationwide incidence rates for fifteen neuromuscular disorders predominantly diagnosed in adult life, nine which were previously unavailable. The capture-recapture approach provided estimates of the total number of individuals with neuromuscular disorders. To complete the gaps in the knowledge of disease frequencies, there is a need for estimates from an automated, obligatory data collection system of diagnosed and newly diagnosed patients with neuromuscular disorders.
KW - Epidemiology
KW - Incidence
KW - Muscular disease
KW - Myopathy
KW - Neuromuscular disorder
U2 - 10.1016/j.nmd.2024.07.006
DO - 10.1016/j.nmd.2024.07.006
M3 - Article
SN - 0960-8966
VL - 42
SP - 27
EP - 35
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -