Prevalence and incidence of neuromuscular conditions in the UK between 2000 and 2019: A retrospective study using primary care data

Abstract

Background In the UK, large-scale electronic primary care datasets can provide up-to-date, accurate epidemiological information on rarer diseases, where specialist diagnoses from hospital discharges and clinic letters are generally well recorded and electronically searchable. Current estimates of the number of people living with neuromuscular disease (NMD) have largely been based on secondary care data sources and lacked direct denominators. Objective To estimate trends in the recording of neuromuscular disease in UK primary care between 2000–2019. Methods The Clinical Practice Research Datalink (CPRD) database was searched electronically to estimate incidence and prevalence rates (per 100,000) for a range of NMDs in each year. To compare trends over time, rates were age standardised to the most recent CPRD population (2019). Results Approximately 13 million patients were actively registered in each year. By 2019, 28,230 active patients had ever received a NMD diagnosis (223.6), which was higher among males (239.0) than females (208.3). The most common classifications were Guillain-Barre syndrome (40.1), myasthenia gravis (33.7), muscular dystrophy (29.5), Charcot-Marie-Tooth (29.5) and inflammatory myopathies (25.0). Since 2000, overall prevalence grew by 63%, with the largest increases seen at older ages (≥65-years). However, overall incidence remained constant, though myasthenia gravis incidence has risen steadily since 2008, while new cases of muscular dystrophy fell over the same period. Conclusions Lifetime recording of many NMDs on primary care records exceed current estimates of people living with these conditions; these are important data for health service and care planning. Temporal trends suggest this number is steadily increasing, and while this may partially be due to better recording, it cannot be simply explained by new cases, as incidence remained constant. The increase in prevalence among older ages suggests increases in life expectancy among those living with NMDs may have occurred.

Deep learning-based algorithm versus physician judgement for diagnosis of myopathy and neuropathy from needle electromyography

“…This can be attributed to the following. First, 38 of the 58 subjects had neuromuscular diseases, which was considerably higher than the real-world prevalence of approximately 200 per 100,000 individuals [39]. Second, electrodiagnosis by physicians differed from the real-world diagnostic process.…”

Prevalence of co-morbidity and history of recent infection in patients with neuromuscular disease: A cross-sectional analysis of United Kingdom primary care data

“…The database recently expanded due to the inclusion of practices using EMIS software [ 14 ] and now includes 16 million currently registered patients. Our analysis includes a total of 1,418 practices actively providing data as of 1/1/2019 [ 9 ]. Additionally, we also used some data from Hospital Episodes Statistics (HES), which has been linked to CPRD patient records [ 15 ].…”

“…Previously, we classified NMD using a hierarchical classification based on the existence of Read codes anywhere previously in their primary care record [ 9 ]. As these represent diagnoses made outside of the primary care setting, generally from specialist settings, it is reasonable to assume most diagnoses are valid.…”

“…Recent studies have indicated that the combined prevalence of all NMDs may now exceed 100 per 100,000 persons [ 7 ], and is rising over time [ 8 ]. Previously, we reported on trends in the incidence and prevalence of NMD recorded in UK primary care and showed an increasing burden among older patients [ 9 ]. Earlier studies of some NMDs, such as Duchene muscular dystrophy have been based almost exclusively primarily on younger patients, who may be less representative of the overall disease burden in the wider population as the associated life expectancy with the condition has increased over time [ 10 ].…”

Modeling neuromuscular diseases in zebrafish

“…Some NMDs, such as Becker muscular dystrophy and Charcot Marie–Tooth disease, show an increasing trend in their prevalence rates since 1991 ( Deenen et al, 2015 ). The lack of proper diagnosis and therapies has resulted in a 63% growth in the prevalence of NMDs among the population of the United Kingdom since 2000 ( Carey et al, 2021 ).…”