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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
  1. Abbreviations: CK Creatinine kinase, DBMD Duchenne/Becker muscular dystrophy, DMD Duchenne muscular dystrophy, ICD-8 International Statistical Classification of Diseases and Related Health Problems, 8th edition, ICD-9 International Statistical Classification of Diseases and Related Health Problems, 9th edition, ICD-10 International Statistical Classification of Diseases and Related Health Problems, 9th edition, MPLA Multiplex ligation-dependent probe amplification
  2. a95% confidence intervals could not be calculated as the crude numbers required to calculate the epidemiological estimate were not provided in the papers