Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia

Abstract

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2–3 years of age, and disease progression is managed through treatment with corticosteroids. The aim of this interim analysis is to increase disease awareness and improve patient management in Saudi Arabia (SA) through the use of data from an ongoing ambispective, observational, multicenter study evaluating characteristics of patients aged 1–14 years with genetically confirmed DMD in SA. This interim analysis examined the secondary outcomes from the study–the demographics and clinical characteristics of patients included retrospectively [data recorded (enrollment visit) between January 2014 and September 2020] and prospectively between September 2020 and April 2021. The primary outcome–the list of DMD gene mutations for the study population–will be reported at a later date. There were 177 eligible patients. Mean, standard deviation (SD) age at enrollment was 7.5 (3.0) years. Median (min, max) age at diagnosis was 7.0 (1.3, 13.8) years. At enrollment, 28.9% of patients were full-time wheelchair users, 50.0% of ambulatory patients could run, and 63.9% could climb stairs. The mean (SD) ages of patients at enrollment who were unable to run and climb stairs were 8.0 (2.7) and 7.6 (3.0) years, respectively. Speech delay (19.4%) and learning difficulties (14.9%) were the most commonly reported intellectual impairments. Physical therapy (84.2%) was the most common choice for initial management of DMD. Only 40.7% of patients received corticosteroid therapy as part of their initial management plan, rising to 59.1% at enrollment. Devices were given to 28.8% of patients for initial management, most commonly ankle-foot orthoses (26.0%) and wheelchairs (6.2%). This analysis reports data from the largest study to date to capture demographics and clinical characteristics of DMD patients in SA. The interim results show a relatively late DMD diagnosis age compared with that in other countries, and a need for improved adherence to international DMD standard of care guidelines. Therefore, there is an urgent requirement for improved DMD education and awareness among healthcare professionals and the public in SA.

Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature

“…Nineteen studies that were not relevant to the study topic were excluded. Out of the studies related to DMD/BMD in Saudi Arabia, 4 studies reported the pathogenic variants of DMD/BMD among Saudi patients ( Table 1 ), and one described the demographics and characteristics of DMD patients in the same country ( 42 ). One study discussed the management approaches of DMD during the Coronavirus disease 2019 pandemic ( 15 ).…”

“…The diagnosis process starts with determining the creatinine kinase (CK) level as well as concentrations of other serum enzymes, such as alanine aminotransferase (ALT) and aspartate aminotransferase (AST) ( 40 ). Genetic testing is the first confirmatory test for the diagnosis ( 42 ). Finally, muscle biopsies for dystrophin staining are recommended for further confirmation for those with clinically compatible dystrophinopathy but with negative genetic findings ( 11 , 12 , 43 ).…”

“…Furthermore, a study of four reported cases concluded that the lack of a standardized referral pathway, awareness and specific logistics results in misdiagnosis and delayed diagnosis of DMD in males ( 16 ). An observational study of individuals with DMD showed that the mean age at genetic diagnosis of DMD in Saudi Arabia is 6.9 years ( 42 ). Unfortunately, there are no standardized referral pathways for DMD patients in the country ( 44 ).…”

Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions

“…Furthermore, the survival analysis for the follow-up evaluation of the patients revealed that, with the progression of the disease, the patients in Group 1 were more prone to becoming wheelchairbound at a younger age compared to those in Group 2 (p = 0.004), as depicted in Table 3 and Figure 4. The reported data on the age of wheelchair dependency in DMD patients of different populations are as follows: in India, the age is 10.4 years [18] and 13 years [34]; in Iran, the age is 10.9 years [35]; in Saudi Arabia, the age is 10.1 years [36]; in the Netherlands, the age is 9.7 years [37]; and in the UK, according to the North Star database and other related studies, the age is 13 years [10,38]. The variability observed in the age at which individuals become dependent on wheelchairs in different populations can potentially be attributed to regional disparities in patient management, healthcare resources, the socioeconomic background of the patients, genetic factors, and the influence of disease modifier genes specific to certain populations [30,[39][40][41][42].…”