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Prevalence study of genetically defined skeletal muscle channelopathies in England.

ABSTRACT: To obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders.Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients assessed at our national specialist channelopathy service. Only patients living in the United Kingdom with a genetically defined diagnosis of nondystrophic myotonia or periodic paralysis were eligible for the study. Prevalence rates were estimated for England, December 2011.A total of 665 patients fulfilled the inclusion criteria, of which 593 were living in England, giving a minimum point prevalence of 1.12/100,000 (95% confidence interval [CI] 1.03-1.21). Disease-specific prevalence figures were as follows: myotonia congenita 0.52/100,000 (95% CI 0.46-0.59), paramyotonia congenita 0.17/100,000 (95% CI 0.13-0.20), sodium channel myotonias 0.06/100,000 (95% CI 0.04-0.08), hyperkalemic periodic paralysis 0.17/100,000 (95% CI 0.13-0.20), hypokalemic periodic paralysis 0.13/100,000 (95% CI 0.10-0.17), and Andersen-Tawil syndrome (ATS) 0.08/100,000 (95% CI 0.05-0.10). In the whole sample (665 patients), 15 out of 104 different CLCN1 mutations accounted for 60% of all patients with myotonia congenita, 11 out of 22 SCN4A mutations for 86% of paramyotonia congenita/sodium channel myotonia pedigrees, and 3 out of 17 KCNJ2 mutations for 42% of ATS pedigrees.We describe for the first time the overall prevalence of genetically defined skeletal muscle channelopathies in England. Despite the large variety of mutations observed in patients with nondystrophic myotonia and ATS, a limited number accounted for a large proportion of cases.

SUBMITTER: Horga A

PROVIDER: S-EPMC3662361 | biostudies-other | 2013 Apr

REPOSITORIES: biostudies-other

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Prevalence study of genetically defined skeletal muscle channelopathies in England.

Horga Alejandro A Raja Rayan Dipa L DL Matthews Emma E Sud Richa R Fialho Doreen D Durran Siobhan C M SC Burge James A JA Portaro Simona S Davis Mary B MB Haworth Andrea A Hanna Michael G MG

Neurology 20130320 16

<h4>Objectives</h4>To obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders.<h4>Methods</h4>Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients assessed at our national specialist channelopathy service. Only patients living in the United Kingdom with a genetically defined diagnosis of nondystrophic myotonia or periodic paralysis were eligible for the ...[more]

PMID: 23516313

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Project description:We have performed a detailed population study of patients with genetic muscle disease in the northern region of England. Our current clinic population comprises over 1100 patients in whom we have molecularly characterized 31 separate muscle disease entities. Diagnostic clarity achieved through careful delineation of clinical features supported by histological, immunological and genetic analysis has allowed us to reach a definitive diagnosis in 75.7% of our patients. We have compared our case profile with that from Walton and Nattrass' seminal study from 1954, also of the northern region, together with data from other more recent studies from around the world. Point prevalence figures for each of the five major disease categories are comparable with those from other recent studies. Myotonic dystrophies are the most common, comprising 28.6% of our clinic population with a point prevalence of 10.6/100,000. Next most frequent are the dystrophinopathies and facioscapulohumeral muscular dystrophy making up 22.9% (8.46/100,000) and 10.7% (3.95/100,000) of the clinic population, respectively. Spinal muscular atrophy patients account for 5.1% or 1.87/100,000 patients. Limb girdle muscular dystrophy, which was described for the first time in the paper by Walton and Nattrass (1954) and comprised 17% of their clinic population, comprises 6.2% of our clinic population at a combined prevalence of 2.27/100,000. The clinic population included patients with 12 other muscle disorders. These disorders ranged from a point prevalence of 0.89/100 000 for the group of congenital muscular dystrophies to conditions with only two affected individuals in a population of three million. For the first time our study provides epidemiological information for X-linked Emery-Dreifuss muscular dystrophy and the collagen VI disorders. Each of the X-linked form of Emery-Dreifuss muscular dystrophy and Ullrich muscular dystrophy has a prevalence of 0.13/100,000, making both very rare. Bethlem myopathy was relatively more common with a prevalence of 0.77/100,000. Overall our study provides comprehensive epidemiological information on individually rare inherited neuromuscular conditions in Northern England. Despite the deliberate exclusion of relatively common groups such as hereditary motor and sensory neuropathy (40/100,000) and mitochondrial disorders (9.2/100,000), the combined prevalence is 37.0/100,000, demonstrating that these disorders, taken as a group, encompass a significant proportion of patients with chronic disease. The study also illustrates the immense diagnostic progress since the first regional survey over 50 years ago by Walton and Nattrass.

Project description:OBJECTIVE:To estimate obesity prevalence among healthcare professionals in England and compare prevalence with those working outside of the health services. DESIGN:Cross-sectional study based on data from 5?years (2008-2012) of the nationally representative Health Survey for England. SETTING:England. PARTICIPANTS:20?103 adults aged 17-65 years indicating they were economically active at the time of survey classified into four occupational groups: nurses (n=422), other healthcare professionals (n=412), unregistered care workers (n=736) and individuals employed in non-health-related occupations (n=18?533). OUTCOME MEASURE:Prevalence of obesity defined as body mass index ?30.0 with 95% CIs and weighted to reflect the population. RESULTS:Obesity prevalence was high across all occupational groups including: among nurses (25.1%, 95%?CI 20.9% to 29.4%); other healthcare professionals (14.4%,?95% CI 11.0% to 17.8%); non-health-related occupations (23.5%,?95% CI 22.9% to 24.1%); and unregistered care workers who had the highest prevalence of obesity (31.9%, 95% CI 28.4% to 35.3%). A logistic regression model adjusted for sociodemographic composition and survey year indicated that, compared with nurses, the odds of being obese were significantly lower for other healthcare professionals (adjusted OR (aOR) 0.52, 95% CI 0.37 to 0.75) and higher for unregistered care workers (aOR 1.46,?95% CI 1.11 to 1.93). There was no significant difference in obesity prevalence between nurses and people working in non-health-related occupations (aOR 0.94,?95% CI 0.74 to 1.18). CONCLUSIONS:High obesity prevalence among nurses and unregistered care workers is concerning as it increases the risks of musculoskeletal conditions and mental health conditions that are the main causes of sickness absence in health services. Further research is required to better understand the reasons for high obesity prevalence among healthcare professionals in England to inform interventions to support individuals to achieve and maintain a healthy weight.

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Prevalence study of genetically defined skeletal muscle channelopathies in England.

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Prevalence study of genetically defined skeletal muscle channelopathies in England.

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