Prevalence of Muscular Dystrophies: A Systematic Literature Review

Abstract

Background: Determiningtheprevalence of neuromuscular disorders for the general population is important to identify the scope of burden on society and enable comparisons with other health conditions. This systematic review aims to identify and collate the findings of studies published between 1960 and 2013 on the prevalence of all types of muscular dystrophies. Summary: Relevant articles were identified through electronic database searches and manual searches of reference lists. There were 38 articles from across 19 countries that met the inclusion criteria. The total combined prevalence for all muscular dystrophies for studies classified as having a low risk of bias ranged between 19.8 and 25.1 per 100,000 person-years. Myotonic dystrophy (0.5-18.1 per 100,000), Duchenne muscular dystrophy (1.7-4.2) and facioscapulohumeral muscular dystrophy (3.2-4.6 per 100,000) were found to be the most common types of disorder. There was wide variation in study methodology, case ascertainment, and verification procedures and populations studied, all of which may contribute to the wide prevalence range, in addition to the likely variation in prevalence by country. Key Messages: Greater consistency in the conduct and reporting of neuroepidemiological studies is urgently needed to enable comparisons to be made between studies, countries, and over time.

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

“…This represents a lack of effort to make data from populations with different demographic structure comparable. Indeed, in a recent systematic literature review on the prevalence of muscular dystrophies worldwide, Theadom and colleagues identified only one study reporting age-standardized prevalence and no studies presenting age or gender distribution [26] .…”

Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy

“…Indeed, whilst standardized methods of reporting have become widespread with other common conditions, such as stroke, there remains a lack of consistency in conditions such as MD. This may be reflected in the considerable variability found in current reported prevalence between 0.5 and 18.1 per 100,000 [2] .…”

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

“…A recent study exploring prevalence of all neuromuscular disorders in the Republic of Ireland [6] utilised a community patient support service to assist in identifying cases; however, the study only included those aged 18 years or over. Previous epidemiological studies of genetic muscle disorders are consequently prone to selection and diagnostic biases [7]. This nationwide population-based study aimed to explore prevalence of genetic muscle disorders in New Zealand (NZ) by age, sex, ethnicity, region and disorder type.…”