Background: In 2015, the first nationwide, multicenter Multiple Sclerosis (MS) registry was initiated in the Kingdom of Saudi Arabia (KSA) mainly with an objective to describe current epidemiology, disease patterns, and clinical characteristics of MS in Saudi Arabia. This article aimed to report initial findings of the registry and regional prevalence of MS.Method: In 2015, a national MS registry was launched in KSA to register all MS patient with confirmed diagnosis according to the 2010 McDonald Criteria. The registry aimed to identify and recruit all healthcare facilities treating MS patients in the Kingdom, and collect data such as demographics, clinical characteristics (disease onset, diagnosis, presentation of symptoms at onset, disease course, relapse rate, and disability measures), family history, and treatments. All the included sites have obtained IRB/EC approvals for participating in the registry. Currently, the registry includes 20 hospitals from different regions across the Kingdom. The Projected prevalence was calculated based on the assumption that the number of diagnosed MS cases in participating hospitals (in each region) is similar to the number of cases in remaining nonparticipant hospitals in the same region.Results: As of September 2018, the registry has included 20 hospitals from the different regions across the Kingdom and has collected comprehensive data on 2516 patients from those hospitals, with median age 32 (Range: 11–63) and 66.5% being females. The reported prevalence of MS for those hospitals was estimated to be 7.70/100,000 population and 11.80/100,000 Saudi nationals. Based on the assumption made earlier, we projected the prevalence for each region and for the country as a whole. The overall prevalence of MS at the country level was reported to be 40.40/100,000 total population and 61.95/100,000 Saudi nationals. Around 3 out of every 4 patients (77.5%) were 40 years of age or younger. Female to male ratio was 2:1. The prevalence was higher among females, young and educated individuals across all five regions of Saudi Arabia.Conclusion: The prevalence of MS has significantly increased in Saudi Arabia but is still much lower than that in the western and other neighboring countries like Kuwait, Qatar, and the UAE. However, compared to the past rates, Saudi Arabia’s projected prevalence of MS through this national study is 40.40/100,000 population, putting the Kingdom above the low risk zone as per Kurtzke classification. The projected prevalence was estimated to be much higher among Saudi nationals (61.95/100,000 Saudi-nationals). The prevalence was higher among female, younger and educated individuals. Further studies are needed to assess the risk factors associated with increased prevalence in Saudi Arabia.

Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

Multiple sclerosis (MS) is the most common non-traumatic condition that leads to disability among young individuals. It is associated with demyelination, inflammation, and neurodegeneration within the central nervous system. Information on risk factors of multiple sclerosis is crucial for the prevention and control of the disease. The aim of this study was to determine risk factors of MS among adults in Saudi Arabia. A matched multicenter case-control study, including 307 MS patients and 307 healthy controls, was conducted in MS clinics and wards in 3 main cities of Saudi Arabia. Age, gender, and hospital were matched. Information on demographics, family history of MS, past medical and family history, sun exposure at different age periods, tobacco use, diet, consanguinity, and coffee consumption was obtained from self-administered questionnaires. ORs and 95% confidence intervals (CIs) were calculated. A conditional logistic regression model was used to control for potential confounding factors. The conditional logistic regression adjusted for age and gender showed that being the first child in the family (Adjusted Odds Ratio (AOR) 1.68, 95% CI: 1.03–2.74), having a family history of MS (AOR 5.83, 95% CI: 2.83–12), eating fast food ≥5 times weekly (AOR 2.05, 95% CI: 1.03–4.08), and having had measles (AOR 3.77, 95% CI: 2.05–6.96), were independently associated with an increased risk of MS. In contrast, eating ≥5 servings of fruit per week (AOR 0.25, 95% CI: 0.16–0.38), drinking coffee daily (AOR 0.46, 95% CI: 0.31–0.68), and having a high level of sun exposure at the primary school level and university level (AOR 0.57, 95% CI: 0.38–0.85 and AOR 0.48, 95% CI: 0.30–0.76, respectively) were independently associated with a decreased risk of MS. Our study suggested that high levels of sun exposure during primary school and university, consumption of fruits and drinking coffee protect against MS. In contrast, eating fast food was associated with an increased risk of the disease. Encouraging outdoor activity and healthy diets in school, especially for females, is highly recommended.

Population-based studies of headache disorders are important. They inform needs assessment and underpin service policy for a set of disorders that are a public-health priority. On the one hand, our knowledge of the global burden of headache is incomplete, with major geographical gaps; on the other, methodological differences and variable quality are notable among published studies of headache prevalence, burden and cost.

Background: Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Although no large‐scale popultion‐based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages.Methods: The final analysis included 4198 normal volunteers aged between 18 and 25 years old, 54.7% males, and 45.3% females. Whole blood was spotted directly from finger pricks onto IsoCode StixTM and genomic DNA was isolated using one triangle from the machine. To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed. We used the carrier frequency and population‐level data to estimate the prevalence of SMA in the population using the life‐table method.Results: This data analysis showed the presence of one copy of the SMN1 gene in 108 samples and two copies in 4090 samples, which resulted from a carrier frequency of 2.6%. The carrier frequency was twofold in females reaching 3.7% compared to 1.6% in males. 27% of participants were children of first‐cousin marriages. We estimated the birth incidence of SMA to be 32 per 100,000 birth and the total number of people living with SMA in the Kingdom of Saudi Arabia to be 2265 of which 188 are type I, 1213 are type II, and 8,64 are type III.Conclusion: The SMA carrier rate of 2.6% in Saudi control subjects is slightly higher than the reported global frequency of 1.25 to 2% with links to the high degree of consanguinity.