Prevalence of neuromuscular disorders in Qena governorate/Egypt: population-based survey

Background:The epidemiology of idiopathic inflammatory myopathies (IIMs) has been extensively studied in America, Europe, and Asia, but remains unclear in Africa.Objective: The aim of this review was to summarize available data on the epidemiology of IIMs in Africa. Methods:We searched MEDLINE, EMBASE, and African Journals Online for studies published up to December 30, 2020, and reporting epidemiological data on IIMs in Africa. Data were combined through narrative synthesis. The review protocol was registered with PROSPERO, CRD42020186781. Results:We included 39 studies reporting 683 cases (71.7% adults) of IIMs. Incidence rates of ~7.5/1,000,000 person-years and 1.2/1,000,000 person-years were estimated for dermatomyositis (DM), whereas polymyositis (PM) had an incidence rate of 8.8/1,000,000 person-years. Prevalence estimates of 11.49/100,000 and 11/100,000 (95% confidence interval, 0-32) were provided for IIMs and the PM subtype, respectively. Mean age at diagnosis ranged from 7.9 to 57.2 years, and 50% to 100% of the patients were females. Main subtypes of adult-onset IIMs were DM (21%-93%) and PM (12%-79%), whereas the commonest juvenile subtype was juvenile DM (5.8%-9%). Skeletal muscle involvement (56%-100%) was the main disease feature, and esophagus was the most commonly affected internal organ (6%-65.2%). Anti-Jo1/histidyl tRNA synthetase (7%-100%) and anti-Mi2 (17%-45%) antibodies were the most frequent myositis specific antibodies. Early mortality was high (7.8%-45%), and main death causes were infections, cancers and organ damage in respiratory and cardiovascular domains.Conclusions: Apart from a potential younger age at onset of adult IIMs in Africa, current sparse data mostly suggest a similar epidemiology between Africa and other regions. Further high-quality studies are required to validate these findings.

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“…As depicted in Figure 1, 39 of 9918 identified records were included 13–51 . Studies were conducted in 19 countries between 1958 and 2019.…”

Section: Resultsmentioning

confidence: 99%

Epidemiology of Idiopathic Inflammatory Myopathies in Africa

et al. 2021

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“…In a recent in-depth genetic analysis study on a large cohort of FSHD patients, a Lebanese family with five affected individuals was discussed, four of whom were diagnosed with distal 4qA repeat deletions [42]. Literature on FSHD in the Middle East is limited to a few studies from Iran, Egypt and Libya reporting relatively low numbers of patients in NMD cohorts [43][44][45][46]. The molecular diagnosis of FSHD1 remains technically challenging even with NGS, thus explaining in part the low rate of detection of this condition in Middle Eastern populations.…”

Section: Facioscapulohumeral Muscular Dystrophymentioning

confidence: 99%

“…Clinically focused community surveys and hospital studies have offered brief insight into the spectrum of NMDs in the Middle East, including studies in Egypt, Saudi Arabia, and Libya, with sparse reporting on a multitude of NMD subtypes [22,[44][45][46]71]. While large, in-depth, and locus-specific mutational studies are gaining prominence in the region [72,73], extensive studies are needed to address the broad spectrum of genetic NMDs that are rapidly being identified and incorporated into globally recognized patient registries.…”

Section: Comparison With Other Nmd Reportsmentioning

confidence: 99%

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Mégarbané

Bizzari

Deepthi

et al. 2022

JND

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Background: Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce. Objective: This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon. Methods: Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999–2019) was reviewed. Results: A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4%of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3%of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17%of patients). The latter disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5%of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided. Conclusions: Our study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.

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“…There is a paucity of data regarding muscle channelopathies in Africa. A population study from Egypt reported a lifetime prevalence of 54 per 100,000 ( 54 , 55 ). A case report documented the first case of an African family (spanning five generations) with hypokalaemic periodic paralysis due to the CACNA1S R1239H variant.…”

Section: Paediatric Nmd In the South African Populationsmentioning

confidence: 99%

A case for genomic medicine in South African paediatric patients with neuromuscular disease

et al. 2022

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Paediatric neuromuscular diseases are under-recognised and under-diagnosed in Africa, especially those of genetic origin. This may be attributable to various factors, inclusive of socioeconomic barriers, high burden of communicable and non-communicable diseases, resource constraints, lack of expertise in specialised fields and paucity of genetic testing facilities and biobanks in the African population, making access to and interpretation of results more challenging. As new treatments become available that are effective for specific sub-phenotypes, it is even more important to confirm a genetic diagnosis for affected children to be eligible for drug trials and potential treatments. This perspective article aims to create awareness of the major neuromuscular diseases clinically diagnosed in the South African paediatric populations, as well as the current challenges and possible solutions. With this in mind, we introduce a multi-centred research platform (ICGNMD), which aims to address the limited knowledge on NMD aetiology and to improve genetic diagnostic capacities in South African and other African populations.

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Prevalence of neuromuscular disorders in Qena governorate/Egypt: population-based survey

Abstract: The overall CPR of neuromuscular disorders in the general population in Qena governorate/Egypt was higher than reported in other countries.

Cited by 15 publications

References 43 publications

Epidemiology of Idiopathic Inflammatory Myopathies in Africa

Epidemiology of Idiopathic Inflammatory Myopathies in Africa

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

A case for genomic medicine in South African paediatric patients with neuromuscular disease

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