Co-prescribing of opioids and benzodiazepines/Z-drugs associated with all-cause mortality-A population-based longitudinal study in primary care with weak opioids most commonly prescribed.

Introduction: The risk of mortality associated with the co-prescribing of benzodiazepines and opioids has been explored in a number of papers mainly focusing on strong opioids. The mortality risk associated with the use of weak opioids has not been dealt with to a similar extent. Objective: To assess the mortality risk in primary care patients with consistent 3-year co-prescribing of benzodiazepine/Z-drugs (benzodiazepine receptor modulators) and mainly weak opioids (codeine, tramadol). Methods: Of 221,804 patients contacting the primary healthcare centres, 124,436 were selected for further analysis, 88,832 participants fulfilled the inclusion criteria, aged 10-69 years and were divided into four groups with neither any use of benzodiazepines/Z-drugs nor opioids as Group 1, 3 years' use of opioids and no/minimal benzodiazepines/Z-drugs as Group 2, with benzodiazepines/Z-drugs and no/minimal opioids as Group 3, and finally both benzodiazepines/Z-drugs and opioids as Group 4. Hazard ratios were calculated with the no-drug group as a reference, using Cox proportional hazards regression model adjusted for age, sex, number of chronic conditions and cancer patients excluded (n = 87,314). Results: Hazard ratios for mortality increased both in Group 3 where it was 2.66 (95% CI 2.25-3.09) and in Group 4 where it was 5.12 (95% CI 4.25-6.17), with increased dose and higher number of chronic conditions. In Group 4 an opioid dose-dependent increase in mortality among persons using >1000 DDDs benzodiazepines/Z-drugs was observed when those on less than ≤300 DDDs of opioids with HR 4.94 (95% CI 3.54-6.88) were compared to those on >300 DDDs with HR 7.61/95% CI 6.08-9.55). This increase in mortality was not observed among patients on <1000 DDDs of benzodiazepines/Z-drugs. Conclusion: The study supports evidence suggesting that mortality increases in a dose-dependent manner in patients co-prescribed benzodiazepines/Z-drugs and weak opioids (codeine, tramadol). An association between the number of chronic conditions and a rise in mortality was found. Long-term use of these drugs should preferably be avoided. Non-pharmacological therapy should be seriously considered instead of long-term use of benzodiazepines/Z-drugs, and deprescribing implemented for chronic users of these drugs when possible.

A Saga-In-Progress: Challenges and Milestones on Our Way Toward the Nordic Core Values and Principles of Family Medicine/General Practice.

Late in 2020, the Nordic Colleges of General Practice published a joint statement specifying what General Practitioners stand for and intend to act upon, our Core Values and Principles. In this article, the authors describe and analyze challenges and milestones encountered on our 50-year journey toward the creation of that document. The shaping of Family Medicine/General Practice as an academic discipline began in the 1960's. During an initial, descriptive phase, the new specialty was defined, its educational curricula formulated, and the core competencies required to earn the title, Specialist in Family Medicine, were identified. Focus was not yet placed directly on the relationship between viable working principles and values, however. Then, the 1978 WHO Alma Ata Declaration affirmed health to be a fundamental human right, with primary health care as the heart of sustainable health care systems, indirectly mandating that the field of Family Medicine deliver value-based health care. A major step in that process was taken in 2001: The Norwegian College of General Practice launched their statement identifying the seven theses, Sju teser, that characterize the principles, purposes-and core values-of General Practice. Later, the Nordic colleges worked together to formulate the 2020 joint statement. We are confident that Family Medicine will continue to provide sustainable, relationship-based care, and to protect the human side of medicine. Sharing core values and principles can help us mobilize as effective advocates for our discipline and for our patients, the citizens whom we serve.

The Role of Anger in Motivating Leadership.

As doctors, we see every working day the pervasive effects of different forms of structural violence and discrimination that undermine the hopes and aspirations of those on the losing side. This leads to powerlessness, fear and anger. Anger is not only forward facing but also directed toward, systems, institutions, governments-rather than individuals. At its best it is a protest against the status quo. We point out that leadership is one of the core values of our professionalism. In the light of what we see and hear, we have a responsibility to use the anger that this engenders within us to speak truth to power: this speaking is leadership. Our message is: feel the fear and the anger, use it to change the world, and enfold leadership in hope and the pursuit of justice.

How primary healthcare in Iceland swiftly changed its strategy in response to the COVID-19 pandemic.

OBJECTIVE: To describe how the primary healthcare (PHC) in Iceland changed its strategy to handle the COVID-19 pandemic. DESIGN: Descriptive observational study. SETTING: Reykjavik, the capital of Iceland. POPULATION: The Reykjavik area has a total of 233 000 inhabitants. MAIN OUTCOME MEASURES: The number and the mode of consultations carried out. Drug prescriptions and changes in the 10 most common diagnoses made in PHC. Laboratory tests including COVID-19 tests. Average numbers in March and April 2020 compared with the same months in 2018 and 2019. RESULTS: Pragmatic strategies and new tasks were rapidly applied to the clinical work to meet the foreseen healthcare needs caused by the pandemic. The number of daytime consultations increased by 35% or from 780 to 1051/1000 inhabitants (p<0.001) during the study period. Telephone and web-based consultations increased by 127% (p<0.001). The same tendency was observed in out-of-hours services. The number of consultations in maternity and well-child care decreased only by 4% (p=0.003). Changes were seen in the 10 most common diagnoses. Most noteworthy, apart from a high number of COVID-19 suspected disease, was that immunisation, depression, hypothyroidism and lumbago were not among the top 10 diagnoses during the epidemic period. The number of drug prescriptions increased by 10.3% (from 494 to 545 per 1000 inhabitants, p<0.001). The number of prescriptions from telephone and web-based consultations rose by 55.6%. No changes were observed in antibiotics prescriptions. CONCLUSIONS: As the first point of contact in the COVID-19 pandemic, the PHC in Iceland managed to change its strategy swiftly while preserving traditional maternity and well-child care, indicating a very solid PHC with substantial flexibility in its organisation.

Complex issues in general practice - a prevalence study. / Komplekse problemstillinger i allmennpraksis ­ en prevalensstudie.

BACKGROUND: The contract GP scheme in Norway has been a success, but the scheme's sustainability has been weakened. In summer 2017, the so-called Trønder rebellion arose among GPs who wished to analyse the situation. In order to obtain a better understanding of their total daily workload, all GPs in Norway were invited to record all their activity on a typical day in their practices. This included 22 pre-defined, currently relevant issues that form the basis of this article. MATERIAL AND METHOD: In 2018, all of Norway's 4 784 registered GPs received a web-based questionnaire survey. Altogether 1 032 doctors responded to the survey. The dataset elucidates more than 20 000 consultations throughout the country and more than 44 000 issues. RESULTS: On average, the GPs carried out 20 consultations addressing 43 different issues on a typical day in their practices. There were small differences between men and women doctors. Multimorbidity was a factor in 29 % of the consultations, mental disorders in 22 % and stress and life strains in 18 %. The GPs felt that they had a key role in providing support or life coaching in 15 % of the consultations. INTERPRETATION: The study documents that complex and demanding issues are a frequent occurrence. The GPs play a key role in the treatment of multimorbid patients, prevention of disease and detection and follow-up of cancer. The study underscores the importance of broad-based knowledge and fundamental continuity in the doctor-patient relationship.

Association between prescription of hypnotics/anxiolytics and mortality in multimorbid and non-multimorbid patients: a longitudinal cohort study in primary care.

OBJECTIVES: To assess the risk of mortality in primary care patients, multimorbid (≥2 chronic conditions) or not, prescribed hypnotics/anxiolytics. DESIGN: A longitudinal cohort study SETTING: Primary healthcare in the Reykjavik area. PARTICIPANTS: 114 084 individuals (aged 10-79 years, average 38.5, SD 18.4) contacting general practitioners during 2009-2012 (mortality follow-up to 31 December 2016). Of those, the reference group comprised 58 560 persons who were neither multimorbid nor had redeemed prescriptions for hypnotics/anxiolytics. Participants (16 108) redeeming prescriptions for hypnotics/anxiolytics on a regular basis for 3 consecutive years were considered as consistent, long-term users. They were subdivided into low-dose (1-300 defined daily doses (DDD)/3 years), medium-dose (301-1095 DDDs/3 years) and high-dose users (>1095 DDDs/3 years). All six groups taking these drugs were compared with the reference group. MAIN OUTCOME MEASURES: All-cause mortality. RESULTS: HRs were calculated with the no multimorbidity-no drug group as a reference, using Cox proportional hazards regression model adjusting for age, sex and the number of chronic conditions (n=111 767), patients with cancer excluded. During follow-up, 516 358 person-years in total, 1926 persons died. Mean follow-up was 1685 days (4.6 years), range 1-1826 days (5.0 years). For all multimorbid patients who took no drugs the HR was 1.14 (95% CI 1.00 to 1.30) compared with those without multimorbidity. HRs in the non-multimorbid participants varied from 1.49 to 3.35 (95% CI ranging from 1.03 to 4.11) with increasing doses of hypnotics/anxiolytics, and correspondingly from 1.55 to 3.52 (1.18 to 4.29) in multimorbid patients. CONCLUSIONS: Mortality increased in a dose-dependent manner among both multimorbid and non-multimorbid patients taking hypnotics/anxiolytics. This increase was clearly associated with prescribing of these drugs. Their use should be limited to the recommended period of 2-4 up to 6 weeks; long-term use may incur increased risk and should be re-examined.

Use of pregnancy ultrasound before the 19th week scan: an analytical study based on the Icelandic Childbirth and Health Cohort.

BACKGROUND AND AIM: Use of ultrasound scans early in pregnancy is increasing, but we have limited knowledge about the actual prevalence, associated decision-making and impact on expectant women/couples in a general population. The aim of this study was to document the use of, and experiences related to, foetal scanning before the recommended 19th week scan among pregnant women in Iceland. POPULATION AND METHODS: The data come from the Icelandic Childbirth and Health Cohort Study 2009-11. A total of 1111 women attending prenatal care at primary care health centres answered questionnaires before mid-pregnancy and after birth, including questions about the number of scanning procedures during pregnancy. These might include consumer-initiated 'pregnancy confirmation scans,' scans for clinical reasons, and screening for foetal anomalies in week 11-14 which is optional in Iceland. The questionnaires also addressed parental decision-making associated with the 11-14 week screening, perception of the pre-screening information, reasons for attending or declining, and whether/how early foetal screening affected the women's concerns related to the unborn child. RESULTS: A total of 95% of the women reported some kind of foetal ultrasound scanning before the 19th week scan, and 64% reported two or more scans in this period. 78% of the women chose to participate in screening for foetal anomalies in week 11-14. Decision-making in relation to this screening was mainly informed by sources outside the healthcare system, and many women characterized participation as 'self-evident'. Most women felt they got sufficient information about the scope of screening, whilst information regarding potential downsides and risks was frequently perceived as insufficient. Most women who chose the 11-14 week screening reported a reassuring or neutral effect, whilst 10% of the women reported that it increased their concerns related to their unborn child. CONCLUSIONS: Ultrasound scans in the first half of pregnancy are in high use in Iceland and have apparently become part of a broader pregnancy culture, encompassing both high- and low-risk pregnancies. Whether this is a favourable development or to some extent represents unwarranted medicalization, can be debated. More balanced information might be provided prior to early screening for foetal anomalies.

History of violence and subjective health of mother and child.

OBJECTIVE: To study the self-reported prevalence of experienced violence among a cohort of women about two years after giving birth, their health during pregnancy, pregnancy outcomes and their experience of their child's health. SETTING AND SUBJECTS: In 2011, a total of 657 women participated in phase III of the Childbirth and Health Cohort Study in Icelandic Primary Health Care, 18 to 24 months after delivery. The women had previously participated in phase I around pregnancy week 16 and phase II 5-6 months after delivery. Data were collected by postal questionnaires. MAIN OUTCOME MEASURES: Women's reported history of experienced violence, sociodemographic and obstetric background, self-perceived health, the use of medications and their child's perceived health. RESULTS: In phase III, 16% of women reported experiencing violence. These women felt less support from their current partner (p < 0.001), compared to those who did not report violence. Their pregnancies were more frequently unplanned (p < 0.001), deliveries more often by caesarean section (p < 0.05), and their self-perceived health was worse (p < 0.001). They reported more mental and somatic health complaints, and their use of antidepressant drugs was higher (p < 0.001). Furthermore, women with a history of violence considered their child's general health as worse (p = 0.008). CONCLUSIONS: Our study confirms that a history of violence is common among women. A history of violence is associated with various maternal health problems during and after pregnancy, a higher rate of caesarean sections and maternal reports of health problems in their child 18-24 months after birth. KEY POINTS Violence is a major concern worldwide. Understanding the impact of violence on human health and developing effective preventive measures are important elements of any public health agenda. • The reported prevalence of experiencing violence was 16% among women attending antenatal care in the primary health care setting in Iceland. • Women with a history of violence reported worse health in general during pregnancy and delivered more often by caesarean section, compared to women with no such history. • Mothers with a history of violence also evaluated the general health of their child as worse than women with no such history. • The findings of this study support the importance of recognizing and addressing experienced violence among women in primary care.

Does 'existential unease' predict adult multimorbidity? Analytical cohort study on embodiment based on the Norwegian HUNT population.

OBJECTIVES: Multimorbidity is prevalent, and knowledge regarding its aetiology is limited. The general pathogenic impact of adverse life experiences, comprising a wide-ranging typology, is well documented and coherent with the concept allostatic overload (the long-term impact of stress on human physiology) and the notion embodiment (the conversion of sociocultural and environmental influences into physiological characteristics). Less is known about the medical relevance of subtle distress or unease. The study aim was to prospectively explore the associations between existential unease (coined as a meta-term for the included items) and multimorbidity. SETTING: Our data are derived from an unselected Norwegian population, the Nord-Trøndelag Health Study, phases 2 (1995-1997) and 3 (2006-2008), with a mean of 11 years follow-up. PARTICIPANTS: The analysis includes 20 365 individuals aged 20-59 years who participated in both phases and was classified without multimorbidity (with 0-1 disease) at baseline. METHODS: From HUNT2, we selected 11 items indicating 'unease' in the realms of self-esteem, well-being, sense of coherence and social relationships. Poisson regressions were used to generate relative risk (RR) of developing multimorbidity, according to the respondents' ease/unease profile. RESULTS: A total of 6277 (30.8%) participants developed multimorbidity. They were older, more likely to be women, smokers and with lower education. 10 of the 11 'unease' items were significantly related to the development of multimorbidity. The items 'poor self-rated health' and 'feeling dissatisfied with life' exhibited the highest RR, 1.55 and 1.44, respectively (95% CI 1.44 to 1.66 and 1.21 to 1.71). The prevalence of multimorbidity increased with the number of 'unease' factors, from 26.7% for no factor to 49.2% for 6 or more. CONCLUSIONS: In this prospective study, 'existential unease' was associated with the development of multimorbidity in a dose-response manner. The finding indicates that existential unease increases people's vulnerability to disease, concordant with current literature regarding increased allostatic load.

GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.

MOTIVATION: Our aim was to create a general-purpose relational data format and analysis tools to provide an efficient and coherent framework for working with large volumes of DNA sequence data. RESULTS: For this purpose we developed the GORpipe software system. It is based on a genomic ordered architecture and uses a declarative query language that combines features from SQL and shell pipe syntax in a novel manner. The system can for instance be used to annotate sequence variants, find genomic spatial overlap between various types of genomic features, filter and aggregate them in various ways. AVAILABILITY AND IMPLEMENTATION: The GORpipe software is freely available for non-commercial academic usage and can be downloaded from www.nextcode.com/gorpipe CONTACT: hakon@wuxinextcode.comSupplementary information: Supplementary data are available at Bioinformatics online.

Multimorbidity and use of hypnotic and anxiolytic drugs: cross-sectional and follow-up study in primary healthcare in Iceland.

BACKGROUND: The prevalence of multimorbidity is increasing worldwide, presumably leading to an increased use of medicines. During the last decades the use of hypnotic and anxiolytic benzodiazepine derivatives and related drugs has increased dramatically. These drugs are frequently prescribed for people with a sleep disorder often merely designated as "insomnia" in the medical records and lacking a clear connection with the roots of the patients' problems. Our aim was to analyse the prevalence of multimorbidity in primary healthcare in Iceland, while concurrently investigating a possible association with the prevalence and incidence of hypnotic/anxiolytic prescriptions, short-term versus chronic use. METHODS: Data were retrieved from a comprehensive database of medical records from primary healthcare in Iceland to find multimorbid patients and prescriptions for hypnotics and anxiolytics, linking diagnoses (ICD-10) and prescriptions (2009-2012) to examine a possible association. Nearly 222,000 patients, 83 % being local residents in the capital area, who contacted 16 healthcare centres served in total by 140 general practitioners, were set as a reference to find the prevalence of multimorbidity as well as the prevalence and incidence of hypnotic/anxiolytic prescriptions. RESULTS: The prevalence of multimorbidity in the primary care population was 35 %, lowest in the young, increasing with age up to the 80+ group where it dropped somewhat. The prevalence of hypnotic/anxiolytic prescriptions was 13.9 %. The incidence rate was 19.4 per 1000 persons per year in 2011, and 85 % of the patients prescribed hypnotics/anxiolytics were multimorbid. Compared to patients without multimorbidity, multimorbid patients were far more likely to be prescribed a hypnotic and/or an anxiolytic, OR = 14.9 (95 % CI = 14.4-15.4). CONCLUSIONS: Patients with multiple chronic conditions are common in the primary care setting, and prevalence and incidence of hypnotic/anxiolytic prescriptions are high. Solely explaining use of these drugs by linear thinking, i.e. that "insomnia" leads to their prescription is probably simplistic, since the majority of patients prescribed these drugs are multimorbid having several chronic conditions which could lead to sleeping problems. However, multimorbidity as such is not an indication for hypnotics, and doctors should be urged to greater caution in their prescribing, bearing in mind non-pharmacological therapy options.

A 32-year longitudinal study of alcohol consumption in Swedish women: Reduced risk of myocardial infarction but increased risk of cancer.

OBJECTIVE: To assess associations between the intake of different types of alcoholic beverages and the 32-year incidence of myocardial infarction, stroke, diabetes, and cancer, as well as mortality, in a middle-aged female population. DESIGN: Prospective study. SETTING: Gothenburg, Sweden, population about 430 000. SUBJECTS: Representative sample of a general population of women (1462 in total) aged 38 to 60 years in 1968-1969, followed up to the ages of 70 to 92 years in 2000-2001. MAIN OUTCOME MEASURES: Associations between alcohol intake and later risk of mortality and morbidity from myocardial infarction, stroke, diabetes, and cancer, studied longitudinally. RESULTS: During the follow-up period, 185 women developed myocardial infarction, 162 developed stroke, 160 women became diabetic, and 345 developed cancer. Women who drank beer had a 30% lower risk (hazards ratio (HR) 0.70, 95% confidence interval (CI) 0.50-0.95) of developing myocardial infarcion and almost half the risk (HR 0.51 CI 0.33-0.80). A significant association between increased risk of death from cancer and high spirits consumption was also shown (hazards ratio [HR] 1.47, CI 1.06-2.05). CONCLUSIONS: Women with moderate consumption of beer had a reduced risk of developing myocardial infarction. High spirits consumption was associated with increased risk of cancer mortality.

Self Reported Childhood Difficulties, Adult Multimorbidity and Allostatic Load. A Cross-Sectional Analysis of the Norwegian HUNT Study.

BACKGROUND: Multimorbidity receives increasing scientific attention. So does the detrimental health impact of adverse childhood experiences (ACE). Aetiological pathways from ACE to complex disease burdens are under investigation. In this context, the concept of allostatic overload is relevant, denoting the link between chronic detrimental stress, widespread biological perturbations and disease development. This study aimed to explore associations between self-reported childhood quality, biological perturbations and multimorbidity in adulthood. MATERIALS AND METHODS: We included 37 612 participants, 30-69 years, from the Nord-Trøndelag Health Study, HUNT3 (2006-8). Twenty one chronic diseases, twelve biological parameters associated with allostatic load and four behavioural factors were analysed. Participants were categorised according to the self-reported quality of their childhood, as reflected in one question, alternatives ranging from 'very good' to 'very difficult'. The association between childhood quality, behavioural patterns, allostatic load and multimorbidity was compared between groups. RESULTS: Overall, 85.4% of participants reported a 'good' or 'very good' childhood; 10.6% average, 3.3% 'difficult' and 0.8% 'very difficult'. Childhood difficulties were reported more often among women, smokers, individuals with sleep problems, less physical activity and lower education. In total, 44.8% of participants with a very good childhood had multimorbidity compared to 77.1% of those with a very difficult childhood (Odds ratio: 5.08; 95% CI: 3.63-7.11). Prevalences of individual diseases also differed significantly according to childhood quality; all but two (cancer and hypertension) showed a significantly higher prevalence (p<0.05) as childhood was categorised as more difficult. Eight of the 12 allostatic parameters differed significantly between childhood groups. CONCLUSIONS: We found a general, graded association between self-reported childhood difficulties on the one hand and multimorbidity, individual disease burden and biological perturbations on the other. The finding is in accordance with previous research which conceptualises allostatic overload as an important route by which childhood adversities become biologically embodied.

Drug use during early pregnancy: cross-sectional analysis from the Childbirth and Health Study in Primary Care in Iceland.

OBJECTIVE: To analyse drug use in early pregnancy with special focus on socio-demographic factors associated with psychotropic and analgesic drug use. DESIGN: Cross-sectional study. SETTING AND SUBJECTS: A total of 1765 women were invited via their local health care centres, and 1111 participated at 11-16 weeks of pregnancy by filling out a postal questionnaire concerning socio-demographic and obstetric background, stressful life events, and drug use. MAIN OUTCOME MEASURES: Drug use prior to and early on in pregnancy, socio-demographic factors, smoking, and adverse life events were investigated. Drug categories screened for were psychotropics (collective term for antidepressants, relaxants, and sleep medication), analgesics, hormones, nicotine, vitamins/minerals, and homeopathic medicine. RESULTS: Drug use from the aforementioned drug categories, excluding vitamins/minerals and homeopathic medicine, was reduced by 18% during early pregnancy, compared with six months prior to conception (49% vs. 60%). Psychotropic drug use during early pregnancy was associated with elementary maternal education (p < 0.5), being unemployed (p < 0.001), being single/divorced/separated (p < 0.01), smoking prior to or during pregnancy (p < 0.01), forced to change job/move house (p < 0.001), and psychotropic drug use six months prior to pregnancy (p < 0.001). No items on the stressful life events scale were associated with increased analgesic use, which increased only with multiparity. CONCLUSIONS: Use of analgesics and psychotropic drugs seems common in pregnancy. Our results indicate that lack of a support network, stressful life events, and lower status in society may predispose women to more drug use. GPs and midwives responsible for maternity care could take this into account when evaluating risk and gain for women and foetuses in the primary care setting.

Smoking during pregnancy: childbirth and health study in primary care in Iceland.

OBJECTIVE: To study the prevalence and possible predictors for smoking during pregnancy in Iceland. DESIGN: A cross-sectional study. SETTING: Twenty-six primary health care centres in Iceland 2009-2010. SUBJECTS. Women attending antenatal care in the 11th-16th week of pregnancy were invited to participate by convenient consecutive manner, stratified according to residency. A total of 1111 women provided data in this first phase of the cohort study. MAIN OUTCOME MEASURES: Smoking habits before and during early pregnancy were assessed with a postal questionnaire, which also included questions about socio-demographic background, physical and emotional well-being, and use of medications. RESULTS: The prevalence of smoking prior to pregnancy was 20% (223/1111). During early pregnancy, it was 5% (53/1111). In comparison with women who stopped smoking during early pregnancy, those who continued to smoke had on average a significantly lower level of education, had smoked more cigarettes per day before pregnancy, and were more likely to use nicotine replacement therapy in addition to smoking during pregnancy. A higher number of cigarettes consumed per day before pregnancy and a lower level of education were the strongest predictors for continued smoking during pregnancy. CONCLUSION: The majority of Icelandic women who smoke stop when they become pregnant, and the prevalence of smoking during pregnancy in Iceland is still about 5%. Our results indicate stronger nicotine dependence in women who do not stop smoking during pregnancy. Awareness of this can help general practitioners (GPs) and others providing antenatal care to approach these women with more insight and empathy, which might theoretically help them to quit.

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.

We describe a Hungarian Roma family, originally investigated for autosomal dominant distal muscular atrophy. The mother started toe walking at 3 years and lost ambulation at age 27. Her three daughters presented with early steppage gait and showed variable progression. Muscle biopsies were nonspecific showing myogenic lesions in the mother and lesions resembling neurogenic atrophy in the two siblings. To identify the causative abnormality whole exome sequencing was performed in two affected girls and their unaffected father, unexpectedly revealing the MYH7 mutation c.4849_4851delAAG (p.K1617del) in both girls, reported to be causative for Laing distal myopathy. Sanger sequencing confirmed the mutation in the affected mother and third affected daughter. In line with variable severity in Laing distal myopathy our patients presented a more severe phenotype. Our case is the first demonstration of Laing distal myopathy in the Roma and the successful use of whole exome sequencing in obtaining a definitive diagnosis in ambiguous cases.