A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland

Lefter, Stela; Hardiman, Orla; Ryan, Aisling

doi:10.1212/wnl.0000000000003504

Cited by 87 publications

(74 citation statements)

References 40 publications

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“…Because our study included patients from a tertiary neuromuscular clinic, a selection bias might have occurred. Nonetheless, the three most common etiologies for polyneuropathy (excluding CIDP) in our study were similar to those in a community setting, and the two most common etiologies for muscle disease were muscular dystrophy and inclusion body myositis, which is similar to an epidemiological study in the Republic of Ireland . The diagnosis of polyneuropathy was based on clinical grounds, and we did not use formal clinical or research criteria such as the England criteria for (distal symmetric) polyneuropathy and EFNS and Peripheral Nerve Society (PNS) criteria for CIDP to establish the diagnosis.…”

Section: Discussionsupporting

confidence: 59%

European Federation of Neurological Societies cutoff values significantly reduce creatine kinase sensitivity for diagnosing neuromuscular disorders

et al. 2019

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Introduction Elevated creatine kinase (CK) level was redefined by the European Federation of Neurological Societies)EFNS(as 1.5 times the upper limit of normal. In the current study we sought to determine the sensitivity and specificity of CK testing for the diagnosis of neuromuscular disorders. Methods Demographics and CK levels were retrospectively extracted from an electronic database for 234 patients with neuromuscular disorders. Sensitivity, specificity, and likelihood ratios and the area under curve were determined for each diagnosis and different cutoff CK values. Results Using the EFNS cutoff values significantly reduced CK test sensitivity. Creatine kinase values >1000 IU/L showed a high likelihood (11.04) for myopathies and a low likelihood for polyneuropathies (0). Discussion European Federation of Neurological Societies cutoff values significantly reduce CK sensitivity for diagnosing neuromuscular disorders. While low CK values cannot exclude a neuromuscular disease, values >1000 IU/L are associated with a high likelihood of myopathy.

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Section: Discussionsupporting

confidence: 59%

European Federation of Neurological Societies cutoff values significantly reduce creatine kinase sensitivity for diagnosing neuromuscular disorders

et al. 2019

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“…In addition, not all studies included the full range of ages of patient with CIDP. One study excluding patients younger than 18 years observed a relatively highly prevalence rate (5.87 per 100,000 adults; 95% CI 5.06-6.68), that is probably explained by the increase of CIDP with age [36]. In conclusion, the use of different diagnostic criteria seems to affect the observed incidence and prevalence rates of CIDP but also differences in the use of other inclusion criteria seem to play a role.…”

Section: Discussionmentioning

confidence: 87%

“…While we find that studies using the EFNS/PNS 2006 criteria obtain higher prevalence rates than studies using the AAN criteria, the difference between the 2 estimates is not significant (p = 0.11). One study described prevalence using the EFNS/PNS 2010 criteria (5.87 per 100,000) [36]. Overall, the prediction intervals were substantially wider, thereby reflecting the observed heterogeneity between studies.…”

Section: Incidencementioning

confidence: 99%

Incidence and Prevalence of Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Systematic Review and Meta-Analysis

et al. 2019

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Background: Prevalence and incidence rates of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are required to determine the impact of CIDP on society. We aimed to estimate the prevalence and incidence of CIDP worldwide and to determine the effect of diagnostic criteria on prevalence and incidence. Method: A systematic review was conducted for all published incidence and prevalence studies on CIDP until May 18, 2017. Methodological quality was assessed using the Methodological Evaluation of Observational Research checklist. We performed a random effect meta-analysis to estimate pooled prevalence and incidence rates. Results: Of the 907 studies, 11 were included in the systematic review, 5 in the meta-analysis of incidence (818 cases; 220,513,514 person-years) and 9 in the meta-analysis of prevalence (3,160 cases; 160,765,325 population). These studies had a moderate quality. The pooled crude incidence rate was 0.33 per 100,000 person-years (95% CI 0.21–0.53; I² = 95.7%) and the pooled prevalence rate was 2.81 per 100,000 (95% CI 1.58–4.39; I² = 99.1%). Substantial heterogeneity in incidence and prevalence across studies seems to be partly explained by using different diagnostic criteria. Conclusion: These findings provide a starting point to estimate the social burden of CIDP and demonstrate the need to reach consensus on diagnostic criteria for CIDP.

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“…Myotonic dystrophy type 1 ( dystrophia myotonica, DM1, also called Steinert's disease) is an autosomal dominant multisystem disorder caused by unstable (CTG) n trinucleotide repeat expansion in the 3′ noncoding region of the dystrophia myotonica protein kinase ( DMPK ) gene on chromosome 19q13.3 . The prevalence of DM1 ranges from 0.5/100,000 in Taiwan to 1/550 in Northestern Quebec; the estimate for Europe ranges from 6.8/100,000 to 36.2/100,000 . Myotonia and muscle weakness are the main clinical presentations of DM1.…”

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confidence: 99%

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Wang

Pfeiffer

Alsaggaf

et al. 2017

Intl Journal of Cancer

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Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype. Follow-up started at the latest of the age at practice registration, DM1 diagnosis/control selection or January 1st 1988, and ended at the earliest of the age at first skin cancer diagnosis, death, transfer out of the practice, last date of data collection or the end of the CPRD record (October 31, 2016). During a median follow-up of 3.6 years, 35 DM1 patients and 108 matched DM1-free individuals developed a skin cancer. DM1 patients had an increased risk of skin cancer overall (HR = 5.44, 95% CI = 3.33-8.89, p < 0.0001), and basal cell carcinoma (BCC) (HR = 5.78, 95% CI = 3.36-9.92, p < 0.0001). Risks did not differ by gender, or age at DM1 diagnosis (p-heterogeneity > 0.5). Our data confirm suggested associations between DM1 and skin neoplasms with the highest risk seen for BCC. Patients are advised to minimize ultraviolet light exposure and seek medical advice for suspicious lesions.

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A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland

Abstract: The PR of all adult NMD in RoI is relatively high when compared with other chronic neurologic disorders, although some figures may be an underestimate of the true prevalence. The data provide a framework for international comparison and service planning.

Cited by 87 publications

References 40 publications

European Federation of Neurological Societies cutoff values significantly reduce creatine kinase sensitivity for diagnosing neuromuscular disorders

European Federation of Neurological Societies cutoff values significantly reduce creatine kinase sensitivity for diagnosing neuromuscular disorders

Incidence and Prevalence of Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Systematic Review and Meta-Analysis

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

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