CLINICAL CASE OF KUGELBERG – WELANDER DISEASE (SPINAL MUSCULAR ATROPHY TYPE III)

Background. Differential diagnosis of neuromuscular diseases is one of the most difficult areas in neurology. Molecular genetic research in these patients is of particular importance. The article presents a clinical case of 5q spinal muscular atrophy type III (Kugelberg – Welander disease), confirmed by molecular genetic testing.
Description of the clinical case. The article presents the clinical observation of a patient with an initial diagnosis of Erb – Roth myopathy. A genetic study was carried out. The analysis of the presence of exon 7 of the SMN1/SMN2 genes showed the absence of a signal corresponding to exon 7 of the SMN1 gene. A search for deletions in the SMN1 gene showed the homozygous deletion of exons 7–8 of the SMN1 gene in the proband. Homozygous deletion of exons 7–8 of the SMN1 gene causes 5q proximal spinal muscular atrophy. As a result of determining the num-ber of copies of the SMN1 and SMN2 genes, 0 copies of exons 7–8 of the SMN1 gene and 4 copies of exons 7–8 of the SMN2 gene were registered, which confirms the diagnosis of 5q spinal muscular atrophy type III.
Conclusion. Adult patients suffering from neuromuscular diseases are recommended to undergo confirmatory DNA diagnostics to prescribe pathogenetic treatment, which increases their chances of survival. In young people with a clinical diagnosis of neuromuscular disease, genetic testing is required to clarify the diagnosis and further treatment tactics.

1. Левин О.С., Штульман Д.Р. Неврология: справочник практического врача. 14-е изд. Москва:МЕДпресс-информ;2022 [Levin O.S., Shtulman D.R. Neurology: handbook of a practical doctor. 14 Edition. Moscow:MEDpress-inform;2022 (In Russian)].

2. Влодавец Д.В., Харламов Д.А., Артемьева С.Б., Белоусова Е.Д. Федеральные клинические рекомендации (протоколы) по диагностике и лечению спинальных мышечных атрофий у детей. М.;2013 [Vlodavets D.V., Harlamov D.A., Artemieva S.B., Belousova E.D. Federal clinical guidelines (protocols) for the diagnosis and treatment of spinal muscular atrophy in children. Moscow;2013 (In Russian)]. https://dgkb7.zdravalt.ru/upload/medialibrary/141/1416e0429f94a40bbb4202c35b82cce6.pdf [дата доступа: 04.02.2024].

3. Артемьева С.Б., Влодавец Д.В., Белоусова Е.Д. и др. Проксимальная спинальная мышечная атрофия 5q. [Artemieva S.B., Vlodavets D.V., Belousova E.D. et al. Proximal spinal muscular atrophy 5q. (In Russian)]. https://cr.minzdrav.gov.ru/recomend/593_1 [дата доступа: 04.02.2024].

4. Селивёрстов Ю.А., Клюшников С.А., Иллариошкин С.Н. Спинальные мышечные атрофии: понятие, дифференциальная диагностика, перспективы лечения. Нервные болезни. 2015;(3):9-17 [Seliverstov Y.A., Klushnikov S.A., Illarioshkin S.N. Spinal muscular atrophy: concept, differential diagnosis, treatment prospects. Neurology disease. 2015;(3):9-17. (In Russian)]. https://parkinsonizm.ru/wp-content/uploads/2022/11/dis9_SMA.pdf [дата доступа: 04.02.2024].

5. Забненкова В.В., Дадали Е.Л., Руденская Г.Е. и др. Анализ феногенотипической корреляции у российских больных. СМА I–IV типа. Мед. Генетика. 2012(11):15-21 [Zabnenkova V.V., Dadali E.L., Rudenskaya G.E. et al. Analysis of phenotypic correlation in Russian patients. SMA type I–IV. Med. Genetics. 2012(11):15-21 (In Russian)].

6. Фельдман Е. Атлас нервно-мышечных болезней: Практическое руководство. Пер. с англ. под ред. Гехт А.Б., Санадзе А.Г. М.:Практическая медицина; 2017. [Feldman E. Atlas of neuromuscular diseases: A practical guide. Translated from English. ed. Geht A.B., Sanadze A.G. M.:Practical medicine; 2017].

7. Гехт А.Б., Касаткина Л.Ф., Санадзе А.Г. Атлас нервно-мышечных болезней. Клинические примеры. М.:ООО «Буки-Веди»;2022 [Geht A.B., Kasatkina L.F., Sanadze A.G. Atlas of neuromuscular diseases. Clinical examples. M.:"Buki-Vedi"; 2022].

8. Расширенная шкала оценки моторных функций больницы Хаммерсмит (HFMSE). Методическое руководство и оценочные листы [The Extended Hammersmith Hospital Motor Function Assessment Scale (HFMSE). Methodological guidance and evaluation sheets]. https://ormiz.ru/adm/files/janssen/HFMSE.pdf [дата доступа: 04.02.2024].

9. Ross L.F., Kwon J.M. Spinal Muscular Atrophy: Past, Present, and Future. Neoreviews. 2019; 20(8):e437-e451. DOI:10.1542/neo.20-8-e437

10. Mercuri E., Finkel R.S., Muntoni F. 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