European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2026
Clinical spectrum and genetic landscape of duchenne muscular dystrophy in Azerbaijan.
СтатьяНазвание и аннотация: Перевод в очереди
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Mammadbayli Aytan, Taghiyeva Madina
Аннотация
OBJECTIVE: In Azerbaijan, as in many other countries, duchenne muscular dystrophy DMD poses significant challenges for affected individuals and their families. The aim is to present clinical data and identify the mutation spectrum of the DMD gene in a first nationwide cohort of DMD patients with the goal of guiding future developments in Azerbaijan.
METHODS: The research was conducted in the Azerbaijan Medical University Neurology department, involving boys with DMD. Assessments involve the evaluation of muscle strength, as well as timed motor performance tests, including the time to stand from a supine position, time to climb four standard stairs, The 6-Minute Walk Test, TUG (Timed Up and Go) test. Additionally, the Brooke and Vignos scales for limb function are used. Laboratory approaches involved biochemical evaluation of creatine kinase levels, multiplex ligation-dependent probe amplification (MLPA), and next-generation sequencing (NGS) analysis of the DMD gene. All participants gave written consent to participate in the study. Data were processed using medical statistics methods.
RESULTS: 56 male patients, aged between 1 and 26 years (mean age 9.95 ± 4.19), were recruited. An average age for the disease's onset was 4 years and 3 months. The majority of patients underwent genetic testing based on clinical symptoms and average age at which genetic confirmation was obtained was 8 years and 5 months. At the time of enrollment, 28,5% of patients were dependent on wheelchairs for full-time use. Among the genetic variations in MLPA analysis identified, with 67,9 % being deletions 19,6 % duplications and negative results in 7 cases (12, 5 %). To identify point mutations, sequencing was performed on 7 boys with negative MLPA results, revealing point mutations in all of them, including four nonsense, one splicing, two frameshift.
CONCLUSIONS: In Azerbaijan, as in many countries, DMD remains a significant concern due to its debilitating nature and the lack of widespread awareness and specialized treatment options. The initial results show that DMD is diagnosed at a relatively older age in Azerbaijan compared to other countries, emphasizing the need for improved compliance with international DMD care standards.
METHODS: The research was conducted in the Azerbaijan Medical University Neurology department, involving boys with DMD. Assessments involve the evaluation of muscle strength, as well as timed motor performance tests, including the time to stand from a supine position, time to climb four standard stairs, The 6-Minute Walk Test, TUG (Timed Up and Go) test. Additionally, the Brooke and Vignos scales for limb function are used. Laboratory approaches involved biochemical evaluation of creatine kinase levels, multiplex ligation-dependent probe amplification (MLPA), and next-generation sequencing (NGS) analysis of the DMD gene. All participants gave written consent to participate in the study. Data were processed using medical statistics methods.
RESULTS: 56 male patients, aged between 1 and 26 years (mean age 9.95 ± 4.19), were recruited. An average age for the disease's onset was 4 years and 3 months. The majority of patients underwent genetic testing based on clinical symptoms and average age at which genetic confirmation was obtained was 8 years and 5 months. At the time of enrollment, 28,5% of patients were dependent on wheelchairs for full-time use. Among the genetic variations in MLPA analysis identified, with 67,9 % being deletions 19,6 % duplications and negative results in 7 cases (12, 5 %). To identify point mutations, sequencing was performed on 7 boys with negative MLPA results, revealing point mutations in all of them, including four nonsense, one splicing, two frameshift.
CONCLUSIONS: In Azerbaijan, as in many countries, DMD remains a significant concern due to its debilitating nature and the lack of widespread awareness and specialized treatment options. The initial results show that DMD is diagnosed at a relatively older age in Azerbaijan compared to other countries, emphasizing the need for improved compliance with international DMD care standards.