Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements
Jaxybayeva A. Chunkayeva D. Myrzaliyeva B. Ayaganov D. Lepessova M. Bulekbayeva S. Idrissova Z. Mukhambetova G. Bayanova M. Malfatti E. Urtizberea A.
2023IOS Press BV
Journal of Neuromuscular Diseases
2023#10Issue 2263 - 269 pp.
Background: Neuro-muscular disorders constitutes a group of rare but heterogeneous conditions. The onset of these diseases ranges widely from birth to elderly. Many of them are life threatening and progressive. Neuromuscular science is a very specialised medical field for which specific knowledge and expertise are necessary. Such an expertise is available only partially in Kazakhstan where underdiagnosis, misdiagnosis and mismanagement of patients with muscle diseases are commonplace. Hopefully, times are changing. With the implementation of international guidelines for the diagnosis and treatment of Duchenne Muscular Dystrophy (DMD), patients are now given better care including pharmacological interventions (including steroids in DMD), respiratory and nutritional support. Objectives: To report on clinical data and genetic variants in a nationwide cohort of DMD patients. To describe and analyse management strategies applied in Kazakhstan in these patients. Methods: The medical records of 84 patients recruited by the national expert-consulting board based at the national multidisciplinary centre of reference in neuro-muscular disorders in Astana, Kazakhstan, have been ascertained for the study. The national expert committee meets monthly to decide over the prescription of disease-modifying therapies in paediatric neuromuscular disorders. Data on the age of disease onset, the age at genetic testing, spectrum of genetic variants, the stage of disease and the serum CK levels have been collected. Results The mean age of 84 examined patients was 10 years. In Kazakhstan, the average age of disease manifestation was 3 years and 3 months. The vast majority of patients passed through genetic test due to the clinical manifestations. The average age of genetic confirmation was 7 years and 6 months. There were 58,33%of gross variations, of which 55,95%were deletions and 2,38%were duplications. Nonsense mutations were identified in 29,7%. Conclusion: The authors contend that strictly keeping the clinical guides in the diagnosis of DMD is essential, as the genetic variations may affect the stage and feasibility of novel therapies. The way of management of neuro-muscular diseases used in Kazakhstan is strictly recommended for implementation in developing countries.
deletion , DMD gene , Duchenne muscular dystrophy , genetic spectrum , multiple ligation binding probe amplification , next generation sequencing
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NpJSC Astana Medical University, Astana, Kazakhstan
Kazakh-Russian Medical University, Almaty, Kazakhstan
Akhmet Yassawi University, Turkistan, Kazakhstan
West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan
National Childrens Rehabilitation Center, Astana, Kazakhstan
Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan
Umc, National Research Center for Maternal and Child Health, Astana, Kazakhstan
Paris-Est Créteil Université, Créteil, France
Institute of Myology, Paris, France
NpJSC Astana Medical University
Kazakh-Russian Medical University
Akhmet Yassawi University
West Kazakhstan Marat Ospanov Medical University
National Childrens Rehabilitation Center
Asfendiyarov Kazakh National Medical University
Umc
Paris-Est Créteil Université
Institute of Myology
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