Table 1 Characteristics of the included studies on Duchenne muscular dystrophy epidemiology
From: Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Author, Year of publication | Catchment area | Data source | Population | Study years | Study design | DMD definition | Prevalence type | Epidemiological estimate per 100,000 [95% CI] |
|---|---|---|---|---|---|---|---|---|
DMD Prevalence | ||||||||
Danieli, 1977 [25] | Four districts of Veneto Region (Italy) | Hospital records review | Patients with a diagnosis of DMD from 1952 to 1972 | 1952–1972 | Retrospective chart-review study | High serum CK levels on samples of fresh serum from subjects at rest and 6 h after vigorous physical exercise | Period prevalence per 1000,000 males and females of any age | 3.4 [2.8–4.2] per 100,000 |
Monckton, 1982 [26] | Alberta (Canada) | Hospital/clinic chart review | Cases recorded by three muscular dystrophy association Clinics as well as cases recorded at the Genetics Clinics of the University of Alberta and the Alberta Children’s Hospital | 1950–1979 | Retrospective chart-review study | – | Point prevalence in 1979 per 100,000 males of any age | 9.5 [7.8–11.6] per 100,000 |
Leth, 1985 [27] | Denmark | Collection of data from hospital departments, nursery homes and general practitioners | 445 patients with progressive muscular dystrophy alive January 1st 1965 | 1965–1975 | Retrospective population-based cohort study | Histological changes in muscular tissue, typical electromyographic changes, high serum CK levels, family occurrence of progressive muscular dystrophy | Point prevalence per 1000,000 in 1965 | 6.94 per 100,000a |
Radhakrishnan, 1987 [28] | Benghazi, Lybia | Hospital records review | Patients resident of Benghazi with neuromuscular disorders over the period January 1983–1985 | 1983–1985 | Retrospective chart-review study | DMD diagnosis based on clinical examination, family history, serum CPK, electromyography and investigations to exclude acquired disorders | Point prevalence in 1985 per 100,000 | 6.0 per 100,000a |
Nakagawa, 1991 [29] | Okinawa (Japan) | Hospital chart review (data collected from hospital departments, nursing homes and social health centers) | Patients with DMD in the whole Okinawa prefecture | 1989 | Retrospective population-based cohort study | Clinical presentation, high serum CK levels, electromyography, lens examination and immunohistochemical studies with antidystrophin antibody | Point prevalence per 100,000 males of any age | 7.1 [5.16–9.6] per 100,000 males |
van Essen, 1992 [30] | The Netherlands | Linkage database containing Dutch DMD registry, National Medical Registration file, Death Registry, Medical Genetics database | All living DMD patients on January 1, 1983 in the Netherlands | 1961–1982 | Retrospective population-based cohort study | A score was given considering the clinical status, serum CK levels, electromyograms, muscle biopsy findings, electrocardiograms, and familial occurrence compatible with X-linked recessive inheritance, together with the CK levels in the mother and/or sister when available | Point prevalence in 1983 per 100,000 males of any age | 5.4 [4.9–6.0] per 100,000 males |
Ahlström, 1993 [31] | Örebro (Sweden) | Clinical chart and administrative data (e.g. early retirement pension, temporary disability pension) review | Patients with a diagnosis of DMD between 1974 and 1987 | 1974–1988 | Retrospective chart-review study | – | Point prevalence in 1988 per 100,000 males and females of any age | 0.7 [0.2–2.7] per 100,000 |
Ballo, 1994 [32] | South Africa | Referrals requested from practitioners and genetic clinics | Patients with a diagnosis of DMD between 1987 and 1992 | 1987–1992 | Observational cohort study using retrospectively data | High serum CK levels, electromyography and genetic testing | Period prevalence per 1000 males of any age | 0.9 [0.8–1.1] per 100,000 males |
Hughes, 1996 [33] | Northern Ireland | Primary data: Mailed survey Secondary data: hospital/clinic chart review, administrative data, patient registry | Patients with DMD identified from the records of the North Ireland Muscle Clinic, the North Ireland Medical Genetic Department and from general practitioners, physicians and pediatricians data | 1993–1994 | Epidemiological survey. Population-based cohort study using prospectively and retrospectively collected data | Not specified | Point prevalence in 1994 per 1000,000 males and females of any age | 8.2 [6.3–10.4] per 100,000 |
Hughes, 1996 [33] | Northern Ireland | Primary data: mailed survey Secondary data: hospital/clinic chart review, administrative data, patient registry | Patients with DMD identified from the records of the North Ireland Muscle Clinic, the North Ireland Medical Genetic Department and from general practitioners, physicians and pediatricians data | 1993–1994 | Epidemiological survey. Population-based cohort study using prospectively and retrospectively collected data | Not specified | Point prevalence in 1994 per 1000,000 males of any age | 4.3 [3.3–5.4] per 100,000 males |
Peterlin, 1997 [34] | Slovenia | Registries and medical records review | DMD cases diagnosed in the period 1969–1984 | 1969–1984 | Retrospective population-based cohort study | DMD diagnosis based on the clinical picture, serum enzymes, electromyography and muscle biopsy | Point prevalence in 1990 per 100,000 males of any age | 2.9 [2.0–4.2] per 100,000 males |
Siciliano, 1999 [35] | North-West Tuscany (Italy) | Primary data: mailed survey Secondary data: hospital/clinical records review, administrative databases | Patients treated in the Unit for Muscle Diseases, University of Pisa | 1997 | Epidemiological survey. Population-based cohort study using prospectively and retrospectively collected data | Genetic testing (genomic DNA analysis and dystrophin analysis), clinical exam, high serum CK levels, family history, muscle biopsy | Point prevalence per 100,000 males and females of any age | 1.7 [1.1–2.6] per 100,000 |
Darin, 2000 [36] | Western Sweden | Residential and outpatient registers, muscle biopsy registries and administrative databases | All individuals with neuromuscular disorders born between 1979 and 1994 and admitted in one of the seven hospitals in the region before 1st January 1995 | 1995 | Retrospective population-based cohort study | Clinical exams, high serum CK levels, family history, muscle biopsy, genetic testing | Point prevalence per 100,000 males, aged less than 16 years | 16.8 [11.4–23.8] per 100,000 males |
Jeppesen, 2003 [37] | Aarhus (Denmark) | Medical records of all DMD patients in the Institute of Neuromuscular Diseases, Respiratory Centre East at the State University Hospital and Respiratory Centre West at Aarhus University Hospital | Male Danish population in the period January 1, 1977 to January 1, 2002 and Danish newborn males | 1977–2002 | Retrospective population-based cohort study | Until 1993, ICD-8 code 330.39 (dystrophia musculorum progressiva) or subcode 330.38 (dystrophia musculorum progressiva, typus Duchenne); from 1994 onward, ICD-10 code G71.0 (dystrophia musculorum) or subcode G71.0H (dystrophia musculorum gravis, Duchenne) | Point prevalence in 2002 per 100,000 males of any age | 5.5 [4.6–6.5] per 100,000 males |
Chung, 2003 [38] | Hong Kong | Hospital/clinic chart review from two University teaching hospitals | 332 children aged < 19 years at first assessment with neuromuscular diseases confirmed by using electromyography, muscle biopsy, and/or molecular genetic study | 1985–2001 | Prospective population-based cohort study | High serum CK level, nerve conduction study, electromyography, muscle biopsy, and molecular genetic study of blood DNA | Point prevalence in 2001 per 1000,000 males aged less than 19 years | 9.8 [7.7–12.6] per 100,000 males |
Talkop, 2003 [39] | Estonia | Hospital/clinic chart review, mailed survey, administrative database, patient registry | All patients with DMD born and diagnosed in the period 1977–1999 in Estonia | 1994–1999 | Epidemiological survey. Observational cohort study using retrospectively collected data | Not specified | Point prevalence in 1998 per 100,000 males aged less than 20 years | 12.8 [8.3–18.8] per 100,000 males |
El-Tallawy, 2005 [40] | Assiut (Egypt) | Door-to-door community survey | 52,203 subjects, identified from a door-to-door survey | 1996–1997 | Cross-sectional study | Electrophysiological and biochemical (high serum CK levels) investigations, genetic testing, muscle biopsy | Point prevalence in 1997 per 100,000 males and females of any age | 7.7 [2.1–19.6] per 100,000 |
Norwood, 2009 [41] | Northern England | Database of the Institute of Human Genetics in Newcastle and disease-specific databases | All registered patients (children and adults) with inherited muscle diseases diagnosed and currently seen by the neuromuscular team at the Institute of Human Genetics at Newcastle University | 2007 | Retrospective population-based cohort study | Genetic testing and genetic investigations (deletion, duplication or point mutation in the DMD gene) | Point prevalence per 100,000 males of any age | 8.3 [6.8–9.8] per 100,000 males |
Mah, 2011 [42] | Canada | De-identified data consisting of the clinical phenotypes, diagnostic methods, and molecular genetic reports from DBMD patients from the Canadian Pediatric Neuromuscular Group | DBMD patients followed by participating Canadian Pediatric Neuromuscular Group centers | 2000–2009 | Retrospective population-based cohort study | Clinical phenotypes, diagnostic methods (MLPA, muscular biopsy) and molecular genetic reports | Period prevalence per 10,000 males from birth to 24 years | 10.6 [9.7–11.5] per 100,000 males |
Rasmussen, 2012 [43] | South-Eastern Norway | Prospectively collected patient data | Patients aged under 18 years treated by neuropediatricians | 2005 | Prospective population-based cohort study | Genetic testing (sequencing of the dystrophin gene) and/or muscular biopsy | Point prevalence per 100,000 males from birth to 18 years | 16.2 [11.5–22.8] per 100,000 males |
Romitti, 2015 [44] | USA | MD STARnet database | Patients born from January 1982, to December 2011, resided in an MD STARnet site during any part of that time period, and was diagnosed with childhood-onset DBMD | 1982–2011 | Cross-sectional study | ICD-9 CM code: 359.1 or ICD-10 CM code: G71.0 | Point prevalence in 2010 per 10,000 males aged 5–24 years | 10.2 [9.2–11.2] per 100,000 males |
Ramos, 2016 [45] | Puerto Rico | Data from 141 patients attending the Muscular Dystrophy Association neuromuscular clinics in Puerto Rico (4 clinics in total) | 141 patients attending the Muscular Dystrophy Association neuromuscular clinics in Puerto Rico | 2012 | Retrospective epidemiological survey | “Definite” cases have symptoms referable to DMD and either (1) a documented DMD gene mutation, (2) muscle biopsy evidencing abnormal dystrophin without an alternative explanation, or (3) CK level at least 10 times normal, pedigree compatible with X-linked recessive inheritance, and an affected family member | Point prevalence per 100,000 males of any age | 5.2 [4.2–6.4] per 100,000 males |
Lefter, 2016 [46] | Republic of Ireland | Demographic, clinical, physiologic, histopathology, serology, and genetic data from retrospectively and prospectively identified patients | Adults (≥18 years old) living in the Republic of Ireland ≥5 years | 2012–2013 | Population-based study using retrospectively and prospectively collected data | Genetic and electrophysiological tests | Point prevalence in 2013 per 100,000 males (≥18 years old) | 3.0 [2.3–3.7] per 100,000 males |
DMD Birth prevalence | ||||||||
Brooks, 1977 [47] | South Eastern Scotland | Survey and clinical records review | All cases of DMD who had been born between 1953 and 1968 | 1953–1968 | Retrospective epidemiological survey | – | Period birth prevalence | 26.5 [19.9–35.2] per 100,000 live male births |
Danieli, 1977 [25] | Four districts of Veneto Region (Italy) | Hospital records review | Patients with a diagnosis of DMD from 1952 to 1972 | 1952–1972 | Retrospective chart-review study | High serum CK levels on samples of fresh serum from subjects at rest and 6 h after vigorous physical exercise | Period birth prevalence | 28.2 [22.1–35.8] per 100,000 live male births |
Takeshita, 1977 [48] | Shimane (Japan) | Questionnaires sent to nurse-teachers in infant schools, primary schools and junior high schools in Shimane | – | 1956–1970 | Epidemiological survey | Neurological exams, electromyography, high CPK levels, muscle biopsy | Period birth prevalence | 20.8 [13.3–32.6] per 100,000 live male births |
Drummond, 1979 [49] | New Zealand | Prospectively collected patient data | 101 consecutive live births at St Helen’s Hospital, Auckland, New Zealand | – | Cross-sectional study | High CPK levels in newborn blood spot | Birth prevalence | 20.0 [5.5–72.9] per 100,000 live male births |
Cowan, 1980 [50] | Australia | Survey and clinical records review | DMD cases in New South Wales and in the Australian Capital Territory between 160 and 1971 | 1960–1971 | Retrospective epidemiological survey | – | Period birth prevalence | 18.6 [15.3–22.6] per 100,000 live male births |
Danieli, 1980 [51] | Veneto Region (Italy) | Hospital records review | DMD cases born in the period 1959–1968 | 1952–1972 | Retrospective epidemiological survey | Abnormal CK values | Period birth prevalence | 28.2 [23.3–34.2] per 100,000 live male births |
Bertolotto, 1981 [52] | Turin (Italy) | Clinical records review | All DMD cases born in Turin between 1955 and 1974. | 1955–1974 | Retrospective epidemiological survey | High CPK levels and electromyography | Period birth prevalence | 24.2 [19.3–30.5] per 100,000 live male births |
Monckton, 1982 [26] | Alberta (Canada) | Hospital/clinic chart review | Cases recorded by three muscular dystrophy association Clinics as well as cases recorded at the Genetics Clinics of the University of Alberta and the Alberta Children’s Hospital | 1950–1979 | Retrospective chart-review study | – | Period birth prevalence | 26.2 [21.7–31.5] per 100,000 live male births |
Nigro, 1983 [53] | Campania Region (Italy) | Prospectively collected patient data | DMD cases born in Campania from 1960 until 1971 | 1969–1980 | Cross-sectional study | DMD diagnosis based on age of onset of symptoms, age of onset of the chairbound stage, pseudohypertrophy of calf muscle, marked elevation of CPK levels, muscle biopsy | Period birth prevalence | 21.7 [18.5–25.3] per 100,000 live male births |
Dellamonica, 1983 [54] | France | Prospectively collected patient data | Blood samples of 158,000 newborns obtained 4 to 8 days postnatally | 1978 | Cross-sectional study | High CPK levels in newborn blood spot | Birth prevalence | 16.9 [9.7–29.5] per 100,000 live male births |
Leth, 1985 [27] | Denmark | Collection of data from hospital departments, nursery homes and general practitioners | 445 patients with progressive muscular dystrophy alive January 1st 1965 | 1965–1975 | Retrospective population-based cohort study | Histological changes in muscular tissue, typical electromyografic changes, high serum CK levels, family occurrence of progressive muscular dystrophy | Period birth prevalence | 22.2 per 100,000a |
Scheuerbrandt, 1986 [55] | West Germany | Prospectively collected patient data | – | 1977–1984 | Cross-sectional study | High CK activity in newborn blood spot | Period birth prevalence | 27.2 [20.5–36.0] per 100,000 live male births |
Mostacciuolo, 1987 [56] | Five districts of Veneto Region (Italy) | Hospital records review | DMD cases born in the period 1959–1968 | 1955–1984 | Retrospective epidemiological survey | DMD diagnosis based on electromyography, muscle biopsy, serum enzymes, and clinical history of the patients | Period birth prevalence | 26.0 [34.4–53.9] per 100,000 live male births |
Takeshita, 1987 [57] | Western Japan | Data collected from the preschool development screening program, from public institutions for children and 5 hospitals | DMD cases born between 1956 and 1980 | 1956–1980 | Retrospective population-based cohort study | DMD diagnosis based on electromyography, serum CK levels and muscle biopsy | Period birth prevalence | 19.1 [14.5–25.2] per 100,000 live male births |
Greenberg, 1988 [58] | Canada | Prospectively collected patient data | 18,000 newborn males screened for DMD in the routine Manitoba perinatal screening program | 1986–1987 | Cross-sectional study | High CK levels in newborn blood spot, muscle biopsy | Period birth prevalence | 27.8 [11.9–65.0] per 100,000 live male births |
Tangsrud, 1989 [59] | Southern Norway | Clinical records and national databases review | All boys with a known history of Duchenne muscle dystrophy born during the period 1968–1977 | 1968–1977 | Retrospective chart-review study | Muscle biopsies, electromyographic changes, high serum CK levels | Period birth prevalence | 21.9 [13.5–35.6] per 100,000 males |
Norman, 1989 [60] | Wales | Retrospectively and prospectively collected patient data | – | 1971–1986 | Cross-sectional study | High CK levels | Period birth prevalence | 24.7 per 100,000 malesa |
van Essen, 1992 [30] | The Netherlands | Linkage database containing Dutch DMD registry, National Medical Registration file, Death Registry, Medical Genetics database | All males with DMD both born and diagnosed in the period 1961–1982 in the Netherlands | 1961–1982 | Retrospective population-based cohort study | A score was given considering the clinical status, serum CK levels, electromyograms, muscle biopsy findings, electrocardiograms, and familial occurrence compatible with X-linked recessive inheritance, together with the CK levels in the mother and/or sister when available. | Period birth prevalence | 23.7 [20.7–26.7] per 100,000 live male births |
Merlini, 1992 [61] | Bologna (Italy) | Clinical records review | Children born between 1970 and 1989 in Bologna (Italy) | 1970–1982 | Retrospective epidemiological survey | – | Period birth prevalence | 25.8 [16.7–39.8] per 100,000 live male births |
Bradley, 1993 [62] | Wales | Blood samples obtained through screening program for phenylketonuria and congenital hypothyroidism in all maternity units throughout Wales | – | 1990–1992 | Cross-sectional study | High CK levels in newborn blood spot, genetic testing, molecular genetic mutation analysis, muscle biopsy and dystrophin analysis. | Period birth prevalence | 26.3 [13.8–49.9] per 100,000 live male births |
Peterlin, 1997 [34] | Slovenia | Registries and medical records review | DMD cases diagnosed in the period 1969–1984 | 1969–1984 | Retrospective population-based cohort study | DMD diagnosis based on the clinical picture, serum enzymes, electromyography and muscle biopsy | Period birth prevalence | 13.8 [9.6–19.8] per 100,000 live male births |
Drousiotou, 1998 [63] | Cyprus | 5170 blood samples obtained through the national screening center for phenylketonuria and congenital hypothyroidism | 30,014 newborn males screened for DMD | 1992–1997 | Cross-sectional study | High CK levels in newborn blood spot | Period birth prevalence | 16.7 [7.1–39.0] per 100,000 live male births |
Jeppesen, 2003 [37] | Aarhus (Denmark) | Medical records of all DMD patients in the Institute of Neuromuscular Diseases, Respiratory Centre East at the State University Hospital and Respiratory Centre West at Aarhus University Hospital | Danish live born males from 1972 to 2001 | 1992–1996 | Retrospective population-based cohort study | Until 1993, ICD-8 code 330.39 (dystrophia musculorum progressiva) or subcode 330.38 (dystrophia musculorum progressiva, typus Duchenne); from 1994 onward, ICD-10 code G71.0 (dystrophia musculorum) or subcode G71.0H (dystrophia musculorum gravis, Duchenne) | Period birth prevalence | 18.8 [12.4–25.2] per 100,000 live male births |
Talkop, 2003 [39] | Estonia | Hospital/clinic chart review, mailed survey, administrative database, patient registry | All patients with DMD born and diagnosed in the period 1977–1999 in Estonia | 1986–1990 | Observational cohort study using retrospectively collected data | Not specified | Period birth prevalence | 17.7 [8.8–31.6] per 100,000 live male births |
Eyskens, 2006 [64] | Antwerp (Belgium) | Prospectively collected patient data | 281,214 newborn males screened for dystrophinopathy | 1979–2003 | Cross-sectional study | High CK levels in newborn blood spot | Period birth prevalence | 18.2 [7.1–39.0] per 100,000 live male births |
Dooley, 2010 [65] | Nova Scotia (Canada) | Records of DMD diagnosis from the Pediatric Neurology Division (Dalhousie University) and the IWK Health Centre | All patients with DMD in Nova Scotia | 1969–2003 | Retrospective population-based cohort study | Muscle biopsy or genetic testing | Period birth prevalence | 21.3 [13.8–23.8] per 100,000 live male births |
Mendell, 2012 [66] | Ohio (USA) | Prospectively collected patient data | 37,649 newborn male subjects screened for DMD | 2007–2011 | Cross-sectional study | High CK levels in newborn blood spot and genetic testing (MLPA) | Period birth prevalence | 15.9 [7.3–34.8] per 100,000 live male births |
Moat, 2013 [67] | Wales | Blood spots collected routinely as part of the Wales newborn screening program | 343,170 newborn blood spots screened for DMD | 1990–2011 | Cross-sectional study | High CK levels in newborn blood spot | Period birth prevalence | 19.5 [15.4–24.5] per 100,000 live male births |
König, 2019 [68] | Germany | Neuromuscular centers, genetic institutes and the German patient registries | Patients with either dystrophinopathies or SMA born between 1995 and 2018. | 1995–2018 | Retrospective epidemiological study | – | Point birth prevalence | 1.5 [0.7–3.3] per 100,000 live male births |