Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis

Abstract

Background A variety of mutations in the largest human gene, dystrophin, cause a spectrum from mild to severe dystrophin-associated muscular dystrophies. Duchenne (DMD) and Becker (BMD) muscular dystrophies are located at the severe end of the spectrum that primarily affects skeletal muscle. Progressive muscle weakness in these purely genetic disorders encourages families with a positive history for genetic counseling to prevent a recurrence, which requires an accurate prevalence of the disorder. Here, we provide a systematic review and meta-analysis to determine the prevalence of DMD and BMD worldwide. Method The current systematic review and meta-analysis was carried out using Cochrane seven-step procedure. After determining the research question and inclusion and exclusion criteria, the MagIran, SID, ScienceDirect, WoS, ProQuest, Medline (PubMed), Embase, Cochrane, Scopus, and Google Scholar databases were searched to find relevant studies using defined keywords and all possible keyword combinations using the AND and OR, with no time limit until 2021. The heterogeneity of studies was calculated using the I2 test, and the publication bias was investigated using the Begg and Mazumdar rank correlation test. Statistical analysis of data was performed using Comprehensive Meta-Analysis software (version 2). Results A total of 25 articles involving 901,598,055 people were included. The global prevalence of muscular dystrophy was estimated at 3.6 per 100,000 people (95 CI 2.8–4.5 per 100,000 people), the largest prevalence in the Americans at 5.1 per 100,000 people (95 CI 3.4–7.8 per 100,000 people). According to the subgroup analysis, the prevalence of DMD and BMD was estimated at 4.8 per 100,000 people (95 CI 3.6–6.3 per 100,000 people) and 1.6 per 100,000 people (95 CI 1.1–2.4 per 100,000 people), respectively. Conclusion Knowing the precise prevalence of a genetic disorder helps to more accurately predict the likelihood of preventing its occurrence in families. The global prevalence of DMD and BMD was very high, indicating the urgent need for more attention to prenatal screening and genetic counseling for families with a positive history.

MicroRNAs in Dystrophinopathy

“…Females with a defective allele may also show very mild symptoms, but are at risk for a gradual increase in heart disease [ 4 ]. Globally, the prevalence of muscular dystrophy (MD) is estimated at 3.6 per 100,000 people [ 5 ]. The expected prevalence of DMD is 4.8 per 100,000 and 1.6 per 100,000 for BMD [ 5 ].…”

“…Globally, the prevalence of muscular dystrophy (MD) is estimated at 3.6 per 100,000 people [ 5 ]. The expected prevalence of DMD is 4.8 per 100,000 and 1.6 per 100,000 for BMD [ 5 ]. DMD/BMD accounts for more than 80% of all MD cases [ 6 ].…”

Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy: Comparison with Taurine, a Supplement with Known Beneficial Effects in the mdx Mouse

“…The DMD gene, with over two million base pairs, is the largest of the human genome. Genetic mutations resulting in the ablation of dystrophin protein give rise to Duchenne Muscular Dystrophy (DMD), a rare muscle wasting disorder with an estimated global prevalence of 4.8 per 100,000 [ 1 , 2 ]. Due to X-linked recessive inheritance, mostly boys are affected by DMD.…”

Características clínicas y moleculares de pacientes con distrofia muscular de Duchenne y de Becker en el Hospital Nacional Guillermo Almenara Irigoyen, Perú, 1997-2007

“…A nivel mundial, se estima que la prevalencia de distrofias musculares es de aproximadamente 3,6 casos por cada 100 000 personas (6). Asimismo, se ha reportado que el promedio de casos de DMD y DMB es de 4,8 y 1,5 por cada 100 000 personas, respectivamente (6). La DMD es la distrofia muscular más frecuente, se estima una incidencia de 1 por cada 5136 varones nacidos vivos (7).…”

“…Las personas afectadas suelen tener una esperanza de vida corta de 20 a 30 años (8). Por otro lado, la ascendencia podría jugar un papel importante, al respecto aún hace falta estudios que profundicen las características de DMD/ DMB en poblaciones sudamericanas (6).…”