Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

© 2018 Elsevier B.V. Centronuclear myopathies (CNM) are a group of rare inherited muscular disorders leading to a significantly reduced quality of life and lifespan. To date, CNM epidemiologic reports provide limited incidence and prevalence data. Here, an integrated model utilizing available literature is proposed to obtain a better estimate of overall CNM patient numbers by age, causative gene, severity and geographic region. This model combines published epidemiology data and extrapolates limited data over CNM subtypes, resulting in patient numbers related to age and disease subtype. Further, the model calculates a CNM incidence twofold the current estimates. The estimated incidence of 17 per million births for severe X-linked myotubular myopathy (XLMTM), the main subtype of CNM, corresponds to an estimated prevalence of 2715 in the US, 1204 in the EU, 688 in Japan and 72 in Australia. In conclusion, the model provides an estimate of the CNM incidence, prevalence and survival, and indicates that the current estimates do not fully capture the true incidence and prevalence. With rapid advances in genetic therapies, robust epidemiologic data are needed to further quantify the reliability of incidence, prevalence and survival rates for the different CNM subtypes.

Original publication




Journal article


Neuromuscular Disorders

Publication Date





766 - 777