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Spinal muscular atrophy type 2: efficacy of risdiplam in a 7-year-old child
https://doi.org/10.21508/1027-4065-2022-67-3-100-106
Abstract
Spinal muscular atrophy is a hereditary disease of the nervous system with damage to the motor neurons of the anterior horns of the spinal cord, leading to the development of atrophy and progressive muscle weakness. The article presents a clinical case of type 2 spinal muscular atrophy in a child aged 7 years. For the first time, the diagnosis of spinal muscular atrophy was made and substantiated by the molecular genetic method at the age of 1.5 years. At the age of 2.5 years, the diagnosis of spinal muscular atrophy was confirmed at the Veltischev Research and Clinical Institute for Pediatrics, Moscow. Over the next years, the patient experienced a rapid regression of previously acquired skills. The child ceased to stand with support, to sit independently. Contractures of the knee joints and ankle joints appeared; 2nd degree scoliosis of the spine; dislocation of the head of the left hip joint; symptoms of chronic ventilation failure. Once a year, planned hospitalization was carried out in the neurological department of the children’s hospital at the place of residence to conduct supportive therapy. The patient was repeatedly hospitalized at the Research and Clinical Institute for Pediatrics. In connection with the invariable indications for the treatment of this disease, according to the conclusion of the case conference of the Research and Clinical Institute of Pediatrics, pathogenetic treatment with risdiplam at a dose of 5 mg per day according to the program of premarketing use of this drug was started 4 months ago. While the patient continues to take risdiplam, the disease is stable and the general condition and motor function in the upper extremities improve. Adverse events while taking the drug are not observed.
About the Authors
T. A. Kryuchkova
Belgorod State National Research University
Russian Federation
Russian Federation
Belgorod
E. A. Balakireva
Belgorod State National Research University
Russian Federation
Russian Federation
Belgorod
References
1. Seliverstov Yu.A., Klyushnikov S.A., Illariushkin S.N. Spinal muscular atrophy: concept, differential diagnosis, treatment prospects. Nervnye bolezni 2015; 3: 9–17. (in Russ.)
2. Proximal spinal muscular atrophy 5q. Clinical guidelines. 2020; 105. (in Russ.) https://f-sma.ru/biblioteka/klinic-recom-mzrf/ 02.05.2022.
3. Ross L.F., Kwon J.M. Spinal Muscular Atrophy: Past, Present, and Future. Neo Rev 2019; 20 (8) 437–451. DOI: 10.1542/neo.20-8-e437
4. Mercuri E., Finkel R.S., Muntoni F., Wirth B., Montes J., Main M. et al.; SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018; 28(2): 103–115. DOI: 10.1016/j.nmd.2017.11.005
5. Wijngaarde C.A., Stam M., Otto L.A.M., van Eijk RPA, Cuppen I., Veldhoen E.S. et al. Population-based analysis of survival in spinal muscular atrophy. Neurology 2020; 94 (15): 1634–1644. DOI: 10.1212/WNL.0000000000009248
6. Massalska D., Zimowski J. G., Bijok J., KuciĔska-Chahwan A., àusakowska A., Jakiel G. et al. Prenatal diagnosis of congenital myopathies and muscular dystrophies. Clin Genet 2016; 90: 199–210. DOI: 10.1111/cge.12801
7. Finkel R.S., Mercuri E., Meyer O.H., Simonds A.K., Schroth M.K., Graham R.J. et al. SMA Care group. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018; 28(3): 197–207. DOI: 10.1016/j.nmd.2017.11.004
8. Prygunova T.M. Radaeva T.M., Stepanova E.Yu., Beresneva Е.Е., Azovceva I.A. et al. Syndrome «sluggish child»: significance for differential diagnosis of hereditary metabolic diseases and degenerative lesions of the nervous system. Voprosy sovremennoj pediatrii 2015; 5(14): 586–590. DOI: 10.15690/vsp.v14i5.1444. (in Russ.)
9. Kurushina O.V., Andryushchenko F.A., Agarkova O.I., Dvoretskaya Ya.A. Modern approach to diagnostics and treatment of primary and secondary myopathies. Vestnik VolgGMU 2017; 61(1): 16–22. (in Russ.)
10. Pattali R., Mou Y., Li X.J. AAV9 Vector: a Novel modality in gene therapy for spinal muscular atrophy. Gene Ther 2019; 26(7–8): 287–295. DOI: 10.1038/s41434-019-0085-4
11. Finkel R.S., Mercuri E., Darras B.T. Connolly A.M., Kuntz N.L., Kirschner J. et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med 2017; 377(18): 1723–1732. DOI: 10.1056/NEJMoa1702752
12. Finkel R.S., Chiriboga C.A., Vajsar J., Day J.W., Montes J., De Vivo D.C. et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med 2017; 377(18): 1723–1732. DOI: 10.1056/NEJMoa1702752
13. Darras B.T., Chiriboga C.A., Iannaccone S.T., Swoboda K.J., Montes J., Mignon L. et al. Nusinersen in later-onset spinalmuscular atrophy. Long-term results from the phase 1/2 studies. Neurology 2019; 92: 1–15. DOI: 10.1212/WNL.0000000000007527
14. Wadman R.I., van der Pol W.L., Bosboom W.M., Asselman F.-L., Leonard H., Iannaccone S.T. et al. Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev 2020; 1(1): CD006282. DOI: 10.1002/14651858
15. Ratni H., Ebeling M., Baird J. Bendels S., Bylund J., Chen K.S. et al. Discovery of Risdiplam, a Selective Survival of Motor Neuron÷2(SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA). J Med Chem 2018; 61(15): 6501–6517. DOI: 10.1021/acs.jmedchem.8b00741
16. Mercuri E., Finkel R.S., Muntoni F., Wirth B., Montes J., Main M. et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018; 28(2): 103–115. DOI: 10.1016/j.nmd.2017.11.005
17. Bartels B., Montes J., van der Pol W.L., de Groot J.F. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev 2019; 3(3): CD012120. DOI: 10.1002/14651858
18. Rathore F.A., Afridi A. Does physical exercise training improve functional performance in type 3 spinal muscular atrophy? A Cochrane Review summary with commentary. Child Neurol 2020; 62(9): 1014–1016. DOI: 10.1111/dmcn.14622
19. Kraszewski J.N., Kay D.M., Stevens C.F., Koval C., Haser B., Ortiz V. et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med 2018; 20(6): 608–613. DOI: 10.1038/gim.2017.152
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For citations:
Kryuchkova T.A., Balakireva E.A. Spinal muscular atrophy type 2: efficacy of risdiplam in a 7-year-old child. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(3):100-106. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-3-100-106
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