The prevalence of hereditary neuromuscular disorders in Northern Norway

Müller, Kai Ivar; Ghelue, Marijke Van; Lund, Irène; Jonsrud, Christoffer; Arntzen, Kjell Arne

doi:10.1002/brb3.1948

Cited by 20 publications

(17 citation statements)

References 26 publications

(66 reference statements)

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“…Previous estimates of the prevalence from a systematic review of 10 studies in 2016 reported most countries with a prevalence in the range of 10-20 per 100,000 [39], so our estimates are plausible if there has been an increase in CMT over time. A recent study in Norway estimated a prevalence of 29.9 per 100,000 in 2020 [21] very similar to our latest estimate. The only evidence for a temporal trend we are aware of comes from a study in Northern England, that identified CMT patients in 2010 using multiple health databases, comparing their findings with an earlier epidemiological study from the same area [40].…”

Section: Plos Onesupporting

confidence: 90%

“…Additionally, the Canadian study included cerebral palsy, spina bifida and multiple sclerosis in its NMD definition so any overall comparison is meaningless [9]. The Norwegian study estimated a prevalence of 112 per 100,000 for hereditary neuromuscular disorders in 2020 [21], more similar to our estimate if we excluded acquired myopathies and myasthenia gravis. The Irish study estimated a lower overall adult prevalence of 63 per 100,000 in 2013, possibly due to a stricter case definition that used multiple data sources and excluded patients labelled with possible myopathies or neuropathies [20].…”

Section: Overall Nmd Estimatessupporting

confidence: 63%

“…However, overall comparisons are problematic due to the selection of conditions that have been included or excluded from the definition of NMD. For example, recent large population studies from Ireland [20], Canada [9], Norway [21] all estimated NMD prevalence but did not count polymyositis or dermatomyositis. Additionally, the Canadian study included cerebral palsy, spina bifida and multiple sclerosis in its NMD definition so any overall comparison is meaningless [9].…”

Section: Overall Nmd Estimatesmentioning

confidence: 99%

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

et al. 2021

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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.

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Section: Plos Onesupporting

confidence: 90%

Section: Overall Nmd Estimatessupporting

confidence: 63%

Section: Overall Nmd Estimatesmentioning

confidence: 99%

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

et al. 2021

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“…Due to founder effects, prevalence may skew higher in certain countries, such as Norway, Denmark, and Finland [ 24 ]. A recent study in Norway found prevalence as high as 12.8 per 100,000 [ 25 ]. After removal of biases from crude prevalence estimates, an adjusted prevalence range of 0.9–2.3 per 100,000 was estimated [ 23 ].…”

Section: Epidemiologymentioning

confidence: 99%

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Georganopoulou¹,

Moisiadis²,

Malik³

et al. 2021

Protein J

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The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive. The increase in the characterization of new genotypes in the family of LGMDs further adds to the heterogeneity of the disease. Meanwhile, better understanding of the phenotype led to the reconsideration of the disease definition, which resulted in eight old subtypes to be no longer recognized officially as LGMD and five new diseases to be added to the LGMD family. The unique variabilities of LGMD stem from genetic mutations, which then lead to protein and ultimately muscle dysfunction. Herein, we review the LGMD pathway, starting with the genetic mutations that encode proteins involved in muscle maintenance and repair, and including the genotype–phenotype relationship of the disease, the epidemiology, disease progression, burden of illness, and emerging treatments.

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“…Kennedy disease or spinobulbar muscular atrophy (SBMA), is known as an X-linked, lower motor neuron and muscle disease caused by expanded CAG repeats (CAG > 37) in the first exon of the androgen receptor (AR) gene. It is a rare disorder with a prevalence in Europe ranging from 1-2.5/100,000 in men [1,2]. The onset of neurologic symptoms is usually between age 30-50, and inversely correlated with the CAG repeat length [3].…”

Section: Introductionmentioning

confidence: 99%