Incidence Of Duchenne Muscular Dystrophy Research Articles

A Holistic Approach on Duchenne Muscular Dystrophy by Ayurvedic Treatment Modalities along with Traction: A Case Report

Background & Objectives- Duchenne muscular dystrophy (DMD) is individual and one of the most communal and serious condition come under childhood muscular dystrophies. The incidence of DMD is 1:3500 births of males. It is an X-linked recessive disorder that occurs due to deletion or alteration of dystrophin protein, which is encoded by DMD Gene on Xp21 chromosome. As per the view of Ayurveda, we can consider this disorder as chromosomal hereditary anomalies (Bheejabhagahaavyava dushti janya Adibalapravtrutta vyadhi). Main objective of this case report was reduce the complaints of patient and improve the quality of life. Method and Material- The present study is about the management of DMD as per Ayurveda perspective. An 11 years old male child, has complaints of difficulty in walking, frequent falls while walking, difficulty in sitting or squatting. On Ayurvedic management principles, the present case was managed with palliative care (Shaman) and bio-cleansing therapy (ShodhanChiktsa). Result- After treatment, there was a significant improvement in complaints with signs and symptoms. Interpretation and conclusion- Though we are unable to rule out the disposition of genes through Ayurveda treatment modalities such as internal medicines, 5 detoxification procedures (Panchakarma) procedures, traction etc. we can effectively prolong the deterioration and improve the quality of life with correction in diet and lifestyle as per Ayurveda principles.

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. It is important to establish carrier status of female relatives to restore reproductive confidence for non-carriers and facilitate reproductive options and cardiac surveillance for carriers. This study investigates disease incidence within an Australian model of cascade screening and evolving genetic diagnostic technologies. A retrospective population-based cohort study of all genetically and/or histopathologically confirmed males with DMD, born in New South Wales and the Australian Capital Territory was undertaken from 2002–2012. Cases were identified using state-wide molecular laboratory and clinical databases. The annual disease incidence and “theoretically” preventable cases were extrapolated over the study period. Proband genotype/phenotype, pedigree analysis, carrier-risk and extent of cascade screening were also determined. The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD. Differences in disease incidence were not statistically different when compared between 2002–2007 and 2008–2012 (incidence rate ratio = 1.13, 95% CI 0.76–1.69, p = 0.52). The incidence rate ratio of theoretically preventable cases did not significantly change between 2002–2007 and 2008–2012 (incidence rate ratio = 2.07, 95% CI 0.58–9.21, p = 0.23). Current diagnostic and cascade screening models have limitations in their impact on disease incidence, due to a spectrum of logistical, patient and condition related factors. Innovative approaches to reduce DMD incidence may be better achieved by preconception or early pregnancy carrier screening, prenatal exome sequencing and newborn screening.

Recent advances of glucocorticoids in the treatment of Duchenne muscular dystrophy (Review).

Duchenne muscular dystrophy (DMD) is the most common degenerative neuromuscular disease. The incidence of DMD in live births is 1/3,600-1/6,000. Although glucocorticoid-dependent medication is the mainstay treatment option for DMD, a standard treatment regimen has yet to be determined. The present review discusses the literature on the timing, methods and courses of glucocorticoid treatment for DMD. The review highlights the importance of the immediate commencement of glucocorticoid treatment following the diagnosis of DMD, with weekend-only administration being advantageous. Adherence to long-term single-glucocorticoid therapy can delay the loss of ambulation ability, and the side effects of the treatment are controllable. However, the standard medication for patients of different ages and stages of disease development, and the use of combination therapy require further investigation.

Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy

Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life.

Clinical practice guidelines for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common X-linked recessive disorder of the neuromuscular system. The incidence of DMD in male newborns is approximately 1 in 3500. It is caused by mutations of dystrophin (DMD) gene in Xp21.2 region. The main clinical manifestations of DMD include progressive and symmetrical myasthenia. Due to the involvement of respiratory muscles and myocardium, DMD patients usually die before the age of 30. Genetic testing can uncover the mutations in 93.1% of the patients and lay a foundation for early treatment, improving the quality of life of patients, and preventing the families from having further affected children. This guideline has combined relevant research, guideline and consensus issued at home and abroad, and summarized genetic knowledge and clinical treatment for DMD, with the aim to standardize the diagnosis, treatment and prevention for patients and their families.

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

BackgroundEstimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different organizations behind firewalls to protect the privacy of patients. They tend to be fragmented, incomplete and their aggregation leads to further inaccuracies, as the duplicated records cannot easily be identified. We here report about a novel approach to evaluate the incidences of Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) in Germany.MethodsWe performed a retrospective epidemiological study collecting data from patients with dystrophinopathies (DMD and Becker muscular dystrophy) and SMA born between 1995 and 2018. We invited all neuromuscular centers, genetic institutes and the patient registries for DMD and SMA in Germany to participate in the data collection. A novel web-based application for data entry was developed converting patient identifying information into a hash code. Duplicate entries were reliably allocated to the distinct patient.ResultsWe collected 5409 data entries in our web-based database representing 1955 distinct patients with dystrophinopathies and 1287 patients with SMA. 55.0% of distinct patients were found in one of the 3 data sources only, while 32.0% were found in 2, and 13.0% in all 3 data sources. The highest number of SMA patients was reported by genetic testing laboratories, while for DMD the highest number was reported by the clinical specialist centers. After the removal of duplicate records, the highest yearly incidence for DMD was calculated as 2.57:10,000 in 2001 and the highest incidence for SMA as 1.36:10,000 in 2014.ConclusionWith our novel approach (compliant with data protection regulations), we were able to identify unique patient records and estimate the incidence of DMD and SMA in Germany combining and de-duplicating data from patient registries, genetic institutes, and clinical care centers. Although we combined three different data sources, an unknown number of patients might not have been reported by any of these sources. Therefore, our results reflect the minimal incidence of these diseases.

DUCHENNE MUSCULAR DYSTROPHY - GENETICS: P.216Genetic carrier screening for Duchenne muscular dystrophy: the outcome of over forty years of genetic counselling on disease incidence in New South Wales Australia

Duchenne muscular dystrophy (DMD), an X-linked recessive genetic disorder results in progressive muscle weakness, causing significant morbidity and mortality. Its incidence is approximately 1 in 5000 live male births. DMD is caused by mutations in the dystrophin gene, maternally inherited in approximately two thirds of affected boys. Female relatives have carrier risk. Clinical genetics services offer carrier testing ('cascade screening') and genetic counselling for relatives of DMD patients, enabling identification of carrier status and provision of reproductive options. In selected countries, reduced disease incidence is observed, possibly due to genetic counselling, cascade testing and prenatal diagnosis. To estimate changes in DMD incidence in NSW over 40 years and determine whether cascade screening and genetic counselling has led to this change. A retrospective study of 'probands' (live male and prenatal genetically diagnosed DMD) cases born within NSW from 2002-2012 will be conducted. Female carriers/mosaic cases are excluded from analysis. A retrospective clinical review of confounding factors potentially associated with DMD diagnosis will also be conducted, using clinical data sourced from all the major NSW paediatric hospitals. Data will be collated with results from a previous study reporting DMD incidence over a 25-year period from 1975 to 2001 inclusive. The combined results of these studies will be presented in the final analysis. Birth rate statistics will be sourced from the Australian Bureau of Statistics. The denominator for incidence will be live male birth rates. Data analysis is pending. However, we hypothesize that DMD incidence in NSW has reduced over the last 40 years owing to improvements in the methodology of genetic screening. This study will demonstrate the impact of robust genetic screening and counselling services, thus serving as a model for other health care systems globally.

P.7.8 The national Dutch dystrophinopathy patient registry

Dystrophinopathy patient registries are very useful for improvement of standard care and planning of clinical trials. The Dutch Dystrophinopathy Database contains information of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients in the Netherlands. The historical incidence of DMD is estimated at 20 boys per year and unknown for BMD. DMD and BMD patients received information through patient organisations, treating physicians, the genetic test centre or a website ( www.lumc.nl/duchenne ). Included patients gave consent for registration in the national patient registry and the international TREAT-NMD database, permission to contact their physician and filled out a questionnaire about their disease course. On January 2013 the database contained disease milestones of 420 DMD and 140 BMD patients, including data from 78 deceased DMD and 16 deceased BMD males. 324 DMD and 104 BMD patients have a DNA confirmed diagnosis. The mean yearly incidence for DMD was 18 between 1980 and 2000. Given a mean life expectancy of 27 years this would suggest a prevalence of 486 DMD patients, and thus an inclusion rate in the database of 70%. The mean yearly incidence for BMD was 4 between 1960 and 2000. The mean life expectancy was 55 years suggesting a prevalence of 220 BMD patients, and thus an inclusion rate in the database of 56%. In the DNA confirmed DMD cohort mean age at diagnosis decreased from 5.6 years before 1970 to 4.0 years more recently. The mean age at loss of ambulation increased to 9.8 years and for scoliosis surgery to 14 years. Age at start of mechanical ventilation ranged from 14 to 28 years. Close collaboration during five years between patient organisations, physicians and researchers resulted in a patient registry covering three quarters of all Dutch DMD patients. The yearly update is a constant challenge, but the advantage is one national registry representative for the whole population, limiting selection bias to a minimum.

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis is made in an index case. An 'opt in' screening programme was introduced in Wales in 1990 with the aim to: reduce the diagnostic delay, permit reproductive choice and allow planning of the care of the affected boy. Newborn bloodspots were collected routinely as part of the Wales newborn screening programme. Specific consent was obtained for this test separately from the other tests. During the 21-year period, 369,780 bloodspot cards were received from male infants, of these 343,170 (92.8%) were screened using a bloodspot creatine kinase (CK) assay following parental consent. A total of 145 cases had a raised CK activity (≥250 U/l) and at follow-up, at 6-8 weeks of age, 79 cases had a normal serum CK (false-positive rate 0.023%) and 66 cases had an elevated serum CK. DMD was confirmed in 56 cases by genotyping/muscle biopsy studies, Becker muscular dystrophy in 5 cases and other rarer forms of muscular dystrophy in 5 cases. This long-term study has so far identified 13 false-negative cases. The incidence of DMD in Wales of 1:5136 during this period is lower than that of 1:4046 before commencement of screening in Wales. Screening has reduced the diagnostic delay enabling reproductive choice for parents of affected boys and earlier administration of current therapies.

Incidence of Duchenne muscular dystrophy is associated with social deprivation

Incidence of Duchenne muscular dystrophy is associated with social deprivation

Duchenne muscular dystrophy.

Duchenne and Becker muscular dystrophy are X-linked muscle-wasting disorders that arise from mutations in the gene coding for dystrophin. The incidence of Duchenne muscular dystrophy (DMD) is approximately 1 in 3500 live male births, one-third of which are sporadic with no previous family history. In the absence of dystrophin, patients with DMD exhibit progressive muscle fiber necrosis which, despite the regenerative capacity of the muscle during the early stages, leads to the gradual deposition of fibrotic and fat tissues and the loss of ambulation around 11 years of age. Death due to respiratory failure usually occurs by the third decade (Emery, 1993). Becker muscular dystrophy (BMD), the incidence of which is approximately 10-fold less than DMD, follows a generally much milder course due to the presence of a partially functional form of dystrophin. Generally the BMD phenotype tends to be much more varied, both with regard to the age of onset and clinical presentation, and some patients never lose the ability to walk.

Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy

A retrospective epidemiological survey of the principal neuromuscular disorders was undertaken in the population under the age of 20 yr in Bologna city and province. The incidence of Duchenne muscular dystrophy (DMD) proved to be 25.8 × 10 −5, that is, comparable with the outcome of neonatal screening studies. The incidence of spinal muscular atrophy (SMA) was very high (11.2 × 10 −5), probably the result of our greater awareness and recognition of this disorder. The prevalence of neuromuscular disorders in the 0–19 yr population is 1.5 times that in the general population; that of DMD is 28 × 10 −5 vs 6.3 × 10 −5 and that of the SMA 6.5 × 10 −5 vs 1.2 × 10 −5. Our results indicate that neuromuscular disorders, particularly DMD and SMA I and II, have a much higher prevalence in the first two decades of life than is generally thought. Awareness of the higher prevalence of neuromuscular disorders among the under-20s is essential to the adequate planning of medical services.

Prevalence and incidence of Becker muscular dystrophy

We measured the prevalence and incidence of Becker muscular dystrophy in the Northern Health Region of England, UK. Patients were identified from the records of the Regional Neurological Centre and Muscular Dystrophy Group laboratories, Newcastle upon Tyne, and by writing to local doctors. We used cDNA probes and/or dystrophin immunolabelling of muscle-biopsy samples to prove the diagnosis of all cases. Results were compared with the known prevalence and incidence of Duchenne muscular dystrophy. 73 patients alive and resident in the Northern Health Region were identified, giving a prevalence rate of 2·38/100 000. This compares with a prevalence of Duchenne muscular dystrophy of 2·48/100 000. The cumulative birth incidence of Becker muscular dystrophy (at least 1 in 18 450 male live births) was about one third that of Duchenne muscular dystrophy (1 in 5618 male live births), suggesting that the disorder is more common than previously thought.

Epidemiology of Progressive Muscular Dystrophy in Okinawa, Japan

We studied the prevalence of various types of progressive muscular dystrophy (PMD) in Okinawa, Japan on December 31, 1989 and the incidence of Duchenne muscular dystrophy (DMD) in 5-year periods from 1957 to 1985. We classified patients with PMD clinically, electrophysiologically, molecular biologically and immunohistochemically with antidystrophin antibody, especially for sporadic cases of DMD, Becker muscular dystrophy (BMD) and limb-girdle muscular dystrophy (LG). The prevalence for all PMD in Okinawa was 7.13 X 10(-5) for DMD, 1.82 X 10(-5) for BMD in the male population, 1.55 X 10(-5) for LG, 1.14 X 10(-5) for congenital muscular dystrophy, 2.03 X 10(-5) for facioscapulohumeral muscular dystrophy (FSH), and 9.13 X 10(-5) for myotonic dystrophy (MD) in the total population. The incidence of DMD in the period 1957-1985 was 15.41 X 10(-5) live-born males (LBM) and 3.21 X 10(-5) LBM for BMD. The incidence has apparently declined in Okinawa since 1975. The prevalence of BMD, FSH and MD was rather high in Okinawa compared with previous reports. Molecular biological techniques for classifying patients were indispensable for the epidemiological study of PMD.

Duchenne muscular dystrophy in Wales: a 15 year study, 1971 to 1986.

A register of families with Duchenne muscular dystrophy (DMD) in Wales was set up in 1973 and has been regularly maintained ever since. All women at significant risk in these families were offered estimation of their carrier status by creatine kinase and pedigree analysis. A total of 225 of the 512 women tested was assigned a risk of carrying the DMD gene of less than 5%. One hundred and twenty live births from this group were notified to the register and only one was an affected male. This was the expected number and shows that the risks given were largely accurate. Women given a risk of 5% or greater were offered fetal sexing with termination of any male. Amniocentesis was of limited value and chorionic villus sampling, introduced in 1984, was acceptable to more women at risk. The incidence of DMD in Wales dropped from one in 3435 at the beginning of the study to one in 4046 by 1982, and the proportion of recurrent cases from 40% to 22%. Common reasons for recurrence were birth of a second affected boy before diagnosis of the first, and failure of families with affected dead members in previous generations to be notified to the register. Maintaining an accurate register of DMD families is an essential tool in their management.

Child neuromuscular disease in southern Norway. The prevalence and incidence of Duchenne muscular dystrophy.

In a survey carried out to determine the incidence of Duchenne muscular dystrophy in South East Norway, 38 cases were ascertained among 149,975 live male births during the years 1968-1978. The overall incidence is 1:3,917 in live male births (25.33 x 10(-5). This incidence is compared with those in other studies. There is an apparent drop in incidence in the last cohort studied, and the possible role of genetic counselling and antenatal sexing are discussed.

Decreased incidence of Duchenne muscular dystrophy in western Japan 1956-1980.

In 50 patients from 41 families of Duchenne muscular dystrophy (DMD) born between 1956 and 1980 in the San-in area of Japan, the changes in DMD incidence rate were analyzed through five periods of time: 1956-1960, 1961-1965, 1966-1970, 1971-1975 and 1976-1980. The overall incidence decreased from 22.31 X 10(-5) live male births in the first period to 14.51 X 10(-5) in the last. This decrease was mainly related to the group of mothers who were definite carriers (p less than 0.005), and was probably due to genetic counselling of definite carrier families. For a further decrease in the incidence of DMD, the newborn male screening system for creatine phosphokinase (CPK) and appropriate genetic counselling might be effective. From an analysis of 28 families without previous family history, the expected proportion of maternal carriers was 0.57.

Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory.

A survey was conducted during 1977 to 1978 to determine the incidence of Duchenne muscular dystrophy in New South Wales and the Australian Capital Territory. Ninety-nine cases born between 1960 and 1971 were ascertained representing an incidence rate of 18.6 per 100 000 liveborn males. Over 60% of the ascertained males were isolated cases, and only 7% of affected males had an affected males relative in a previous generation in the female line. Categorisation of ascertained cases as either "theoretically preventable" or not shows that genetic counselling alone in the present circumstances is insufficient to reduce the incidence rate significantly.

The incidence of duchenne muscular dystrophy in New South Wales and the Australian capital territory

A study was carried out during 1977-8 to determine the incidence of Duchenne muscular dystrophy in New South Wales and the Australian Capital Territory. A total of 98 affected males born in the period from 1960 to 1971 inclusive were ascertained, representing an incidence rate of 18.4 per 100,000 liveborn males. The distribution of familial and isolated cases shows that 63% of those cases were isolated. A further 28% had one or more affected brothers. There were only 7 cases who had an affected male relative in a previous generation. The 98 cases were divided also into those who were ‘theoretically preventable’ by genetic counselling and those who were not. The incidence of ‘theoretically preventable’ cases born between 1960 and 1971 was 2.6 per 100,000 liveborn males. The potential of a screening programme of all males at birth for reducing the incidence rate is compared with the incidence rate if all ‘theoretically preventable’ cases had not been born.

A study of possible heterogeneity in Duchenne muscular dystrophy.

One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub-divided into those with and without severe mental handicap. In those with severe mental handicap, ages at onset and of becoming confined to a wheelchair were later, the fall in SCK level with age was less marked, and the urinary excretion of certain aminoacids was greater than in affected boys with normal intelligence. Though the number of subjects investigated was relatively small (15 in each group) and further studies are therefore needed, the results suggest that DMD may not be a single disease entity.