Кыргызстандын Саламаттык Сактоо
Zdravoohraneniye Kyrgyzstana
ISSN 1694-8068 (Print)
ISSN 1694-805X (Online)

Жүлүн жана булчуң атрофиясы, 2-тип: клиникалык окуя

Жүлүн жана булчуң атрофиясы, 2-тип: клиникалык окуя
Полный текст  

Корутунду

Орфан оорулардын көйгөйү ар дайым практиктер арасында чоң кызыгууну туудурган, анткени сейрек кездешсе да, алар белгилүү бир бейтап жана анын бүт үй-бүлөсү үчүн чоң мааниге ээ. Бул макалада клиникалык формалардын кыскача сүрөттөлүшү берилген жана 3 жаштагы баланын жүлүн жана булчуңдарынын атрофия- сынын (СМА) II типтеги клиникалык учуру келтирилген. Балада СМА 13 айлык кезинде байкалды. Бул патоло- гиянын диагнозун коюу молекулярдык генетикалык методдорду колдонуу менен өз убагында диагноз коюу үчүн невропатологдордун, ортопеддердин жана генетиктердин биргелешкен аракеттерин талап кылат. Кичинекей бей- тапта омуртка булчуңдарынын атрофиясынын диагнозу булчуңдардын прогрессивдүү алсыздыгынын клиникалык синдромунун негизинде аныкталган жана лабораториялык жана инструменталдык ыкмалар менен тастыкталган. Атап айтканда: ДНК изилдөөсү жүргүзүлдү, анын натыйжасында SMN генинин 7-8 экзондорунун делециясы го- мозиготалуу абалда катталган. Электроневромиографияда (ЭНМГ) СМАга мүнөздүү болгон жүлүндүн кыймыл- даткыч нейрондорунун жалпыланган жабыркашы аныкталган. Мээнин жана жүлүндүн МРТ, креатинфосфокиназа жана креатинин үчүн кан анализи эч кандай аномалияларды көрсөткөн эмес. Клиникалык, лабораториялык жана инструменталдык маалыматтарды эске алуу менен диагноз коюлган: G 12. Тукум куучулук нерв-булчуң оорусу. Жүлүн жана булчуңдарынын атрофиясы, 2-тип. Перифериялык тетрапарез. Жүлүн жана булчуңдарынын атрофиясы, мурда айтылгандай, сейрек кездешүүчү оору жана ар бир текшерилген учур жакшы сүрөттөлүп, документтештирилиши керек. Катуу булчуң гипотензия синдрому жана булчуңдардын алсыздыгы менен ооруган бейтаптар башка мүмкүн бол- гон генетикалык патологияларды жокко чыгаруу үчүн дароо генетикке текшерүүгө жөнөтүлүшү керек. СМА диагнозу баланын ата-энеси үчүн ар дайым трагедия болуп эсептелет, анткени азыркы учурда бул ооруну дарылоосу жок. Дарылоо СМАнын жана симптомдордун түрүнө жараша болот. Кичинекей бейтап узак мөөнөттүү байкоо жүргүзүү үчүн каттоого алынган, кыймыл-аракет жана таяныч-кыймыл аппаратынын бузулушун коррек- циялоо, ошондой эле экинчилик оорчулуктарды алдын алуу боюнча жеке программа иштелип чыккан.

Авторлор жөнүндө

Мамытова Элмира Миталиповна, д.м.н., доцент, заведующая кафедрой неврологии и клинической генетики им. акад. А. Мурзалиева Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика
Мамытов Миталип Мамытович, д.м.н., профессор, академик НАН Кыргызской Республики,заведующий кафедрой нейрохирургии додипломного и последипломного образования КГМА им. И.К. Ахунбаева, Бишкек, Кыргызская Республика
Нурбекова Уулболсун Ажибековна, старший научный сотрудник Национального центра охраны материнства и детства, Бишкек, Кыргызская Республика

 

Mamytova Elmira Mitalipovna, MD, Associate Professor, Head of the Department of Neurology and Clinical Genetics named after Academician A. Murzaliev of the Kyrgyz State Medical Academy named after I.K. Akhunbaeva, Bishkek, Kyrgyz Republic
Mamytov Mitalip Mamytovich, MD, Professor, Academician of the National Academy of Sciences of the Kyrgyz Republic, Head of the Department of Neurosurgery of Pre-Graduate and Postgraduate Education of the KSMA named after I.K. Akhunbayeva, Bishkek, Kyrgyz Republic
Nurbekova Uulbolsun Azhibekovna, Senior Researcher, National Center for Maternal and Child Health, Bishkek, Kyrgyz Republic

 

Мамытова Элмира Миталиповна, медицина илимдеринин доктору, доцент, И.К. Ахунбаев атындагы КММАнын акад. Мурзалиев А.М. атындагы неврология жана клиникалык генетика кафедрасынын башчысы, Бишкек, Кыргыз Республикасы

Мамытов Миталип Мамытович, медицина илимдеринин доктору, профессор, КР УИАнын академиги, И.К. Ахунбаев атындагы КММАнын Дипломго чейинки жана дипломдон кийинки билим берүүнүн нейрохирургиясы кафедрасынын башчысы, Бишкек, Кыргыз Республикасы

Нурбекова Уулболсун Ажибековна, Улуттук энелерди жана баланы коргоо борборунун улуу илимий кызматкери, Бишкек, Кыргыз Республикасы

 

Шилтемелер

1. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/
2. Wu, Jennifer W. PhD; Pepler, Laura PhD; Maturi, Bridget MSc; Afonso, Alexandria C. F. PhD; Sarmiento, Janice PhD; Haldenby,Renee MSc. Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy. American Journal of Physical Medicine & Rehabilitation: June 2022 - Volume 101 - Issue 6 - p 590-608 doi:
10.1097/PHM.0000000000001869
3. Nance JR: Spinal muscular atrophy. Continuum (Minneap Minn) 2020;26:1348–68
4. Pera MC, Coratti G, Berti B, et al.: Diagnostic journey in spinal muscular atrophy: is it still an odyssey?PLoS One
2020;15:e0230677
5. Messina S, Sframeli M: New treatments in spinal muscular atrophy: positive results and new challenges. J Clin Med 2020;9:2222
6. Ludolph AC, Wurster CD. Therapeutic advances in SMA. Curr Opin Neurol. 2019 Oct;32(5):777-781. [PubMed]
7. Ramdas S, Servais L: New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 2020;21:307–15
8. Pierzchlewicz K, Kępa I, Podogrodzki J, et al.: Spinal muscular atrophy: the use of functional motor scales in the era of diseasemodifying treatment. Child Neurol Open 2021;8:2329048x211008725
9. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. [PubMed]
10. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K., UK SMA Research Consortium. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017 Aug 01;10(8):943-954. [PMC free article] [PubMed]
11. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Cardiac pathology in spinal muscular atrophy:a systematic review. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. [PMC free article] [PubMed]
12. Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother.2019 Jan;53(1):61-69. [PubMed]
13. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC., ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1723-1732. [PubMed]
14. Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. [PMC free article] [PubMed]
15. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1713-1722. [PubMed]
16. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res.2019 Jul-Sep;9(3):127-128. [PMC free article] [PubMed]
17. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019 Jul;79(11):1255-1262. [PubMed]
18. Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B,Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L. 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 Aug 09;61(15):6501-6517. [PubMed]
19. Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int J Mol Sci. 2020 May 07;21(9) [PMC free article] [PubMed]

1. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/
2. Wu, Jennifer W. PhD; Pepler, Laura PhD; Maturi, Bridget MSc; Afonso, Alexandria C. F. PhD; Sarmiento, Janice PhD; Haldenby,Renee MSc. Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy. American Journal of Physical Medicine & Rehabilitation: June 2022 - Volume 101 - Issue 6 - p 590-608 doi:
10.1097/PHM.0000000000001869
3. Nance JR: Spinal muscular atrophy. Continuum (Minneap Minn) 2020;26:1348–68
4. Pera MC, Coratti G, Berti B, et al.: Diagnostic journey in spinal muscular atrophy: is it still an odyssey?PLoS One
2020;15:e0230677
5. Messina S, Sframeli M: New treatments in spinal muscular atrophy: positive results and new challenges. J Clin Med 2020;9:2222
6. Ludolph AC, Wurster CD. Therapeutic advances in SMA. Curr Opin Neurol. 2019 Oct;32(5):777-781. [PubMed]
7. Ramdas S, Servais L: New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 2020;21:307–15
8. Pierzchlewicz K, Kępa I, Podogrodzki J, et al.: Spinal muscular atrophy: the use of functional motor scales in the era of diseasemodifying treatment. Child Neurol Open 2021;8:2329048x211008725
9. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. [PubMed]
10. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K., UK SMA Research Consortium. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017 Aug 01;10(8):943-954. [PMC free article] [PubMed]
11. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Cardiac pathology in spinal muscular atrophy:a systematic review. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. [PMC free article] [PubMed]
12. Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother.2019 Jan;53(1):61-69. [PubMed]
13. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC., ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1723-1732. [PubMed]
14. Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. [PMC free article] [PubMed]
15. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1713-1722. [PubMed]
16. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res.2019 Jul-Sep;9(3):127-128. [PMC free article] [PubMed]
17. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019 Jul;79(11):1255-1262. [PubMed]
18. Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B,Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L. 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 Aug 09;61(15):6501-6517. [PubMed]
19. Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int J Mol Sci. 2020 May 07;21(9) [PMC free article] [PubMed]

1. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/
2. Wu, Jennifer W. PhD; Pepler, Laura PhD; Maturi, Bridget MSc; Afonso, Alexandria C. F. PhD; Sarmiento, Janice PhD; Haldenby,Renee MSc. Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy. American Journal of Physical Medicine & Rehabilitation: June 2022 - Volume 101 - Issue 6 - p 590-608 doi:
10.1097/PHM.0000000000001869
3. Nance JR: Spinal muscular atrophy. Continuum (Minneap Minn) 2020;26:1348–68
4. Pera MC, Coratti G, Berti B, et al.: Diagnostic journey in spinal muscular atrophy: is it still an odyssey?PLoS One
2020;15:e0230677
5. Messina S, Sframeli M: New treatments in spinal muscular atrophy: positive results and new challenges. J Clin Med 2020;9:2222
6. Ludolph AC, Wurster CD. Therapeutic advances in SMA. Curr Opin Neurol. 2019 Oct;32(5):777-781. [PubMed]
7. Ramdas S, Servais L: New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 2020;21:307–15
8. Pierzchlewicz K, Kępa I, Podogrodzki J, et al.: Spinal muscular atrophy: the use of functional motor scales in the era of diseasemodifying treatment. Child Neurol Open 2021;8:2329048x211008725
9. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. [PubMed]
10. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K., UK SMA Research Consortium. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017 Aug 01;10(8):943-954. [PMC free article] [PubMed]
11. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Cardiac pathology in spinal muscular atrophy:a systematic review. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. [PMC free article] [PubMed]
12. Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother.2019 Jan;53(1):61-69. [PubMed]
13. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC., ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1723-1732. [PubMed]
14. Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. [PMC free article] [PubMed]
15. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1713-1722. [PubMed]
16. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res.2019 Jul-Sep;9(3):127-128. [PMC free article] [PubMed]
17. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019 Jul;79(11):1255-1262. [PubMed]
18. Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B,Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L. 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 Aug 09;61(15):6501-6517. [PubMed]
19. Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int J Mol Sci. 2020 May 07;21(9) [PMC free article] [PubMed]

Для цитирования

Мамытова Э.М.,Мамытов М. М.,Нурбекова У.А.Спинальная мышечная атрофия, 2 тип: случай из практики. Здравоохранение Кыргызстана 2022, № 4, с. 54-60. https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54

For citation

Mamytova E.M., Мamytova M. M., Nurbekova U.A. Spinal muscular atrophy type 2: a case report. Health care of Kyrgyzstan 2022, No.4, pp. 54-60. https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54

Цитата үчүн

Мамытова Э.М.,Мамытов М. М.,Нурбекова У.А. Жүлүн жана булчуң атрофиясы, 2-тип: клиникалык окуя. Кыргызстандын саламаттык сактоо 2022, no 4, б. 54-60. https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54

Авторлор Мамытова Э.М., Мамытов М.М., Нурбекова У.А.
Ссылка doi.org https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54
Беттер 54-60
Негизги сөздөр балдар, жүлүн булчуңдарынын атрофиясы, 2 тип, диагностика
Орусча
Об авторах

Мамытова Элмира Миталиповна, д.м.н., доцент, заведующая кафедрой неврологии и клинической генетики им. акад. А. Мурзалиева Кыргызской государственной медицинской академии им. И.К. Ахунбаева, Бишкек, Кыргызская Республика
Мамытов Миталип Мамытович, д.м.н., профессор, академик НАН Кыргызской Республики,заведующий кафедрой нейрохирургии додипломного и последипломного образования КГМА им. И.К. Ахунбаева, Бишкек, Кыргызская Республика
Нурбекова Уулболсун Ажибековна, старший научный сотрудник Национального центра охраны материнства и детства, Бишкек, Кыргызская Республика

 

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Список литературы

1. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/
2. Wu, Jennifer W. PhD; Pepler, Laura PhD; Maturi, Bridget MSc; Afonso, Alexandria C. F. PhD; Sarmiento, Janice PhD; Haldenby,Renee MSc. Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy. American Journal of Physical Medicine & Rehabilitation: June 2022 - Volume 101 - Issue 6 - p 590-608 doi:
10.1097/PHM.0000000000001869
3. Nance JR: Spinal muscular atrophy. Continuum (Minneap Minn) 2020;26:1348–68
4. Pera MC, Coratti G, Berti B, et al.: Diagnostic journey in spinal muscular atrophy: is it still an odyssey?PLoS One
2020;15:e0230677
5. Messina S, Sframeli M: New treatments in spinal muscular atrophy: positive results and new challenges. J Clin Med 2020;9:2222
6. Ludolph AC, Wurster CD. Therapeutic advances in SMA. Curr Opin Neurol. 2019 Oct;32(5):777-781. [PubMed]
7. Ramdas S, Servais L: New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 2020;21:307–15
8. Pierzchlewicz K, Kępa I, Podogrodzki J, et al.: Spinal muscular atrophy: the use of functional motor scales in the era of diseasemodifying treatment. Child Neurol Open 2021;8:2329048x211008725
9. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. [PubMed]
10. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K., UK SMA Research Consortium. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017 Aug 01;10(8):943-954. [PMC free article] [PubMed]
11. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Cardiac pathology in spinal muscular atrophy:a systematic review. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. [PMC free article] [PubMed]
12. Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother.2019 Jan;53(1):61-69. [PubMed]
13. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC., ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1723-1732. [PubMed]
14. Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. [PMC free article] [PubMed]
15. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1713-1722. [PubMed]
16. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res.2019 Jul-Sep;9(3):127-128. [PMC free article] [PubMed]
17. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019 Jul;79(11):1255-1262. [PubMed]
18. Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B,Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L. 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 Aug 09;61(15):6501-6517. [PubMed]
19. Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int J Mol Sci. 2020 May 07;21(9) [PMC free article] [PubMed]

Для цитирования

Мамытова Э.М.,Мамытов М. М.,Нурбекова У.А.Спинальная мышечная атрофия, 2 тип: случай из практики. Здравоохранение Кыргызстана 2022, № 4, с. 54-60. https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54

Англисче
About authors

Mamytova Elmira Mitalipovna, MD, Associate Professor, Head of the Department of Neurology and Clinical Genetics named after Academician A. Murzaliev of the Kyrgyz State Medical Academy named after I.K. Akhunbaeva, Bishkek, Kyrgyz Republic
Mamytov Mitalip Mamytovich, MD, Professor, Academician of the National Academy of Sciences of the Kyrgyz Republic, Head of the Department of Neurosurgery of Pre-Graduate and Postgraduate Education of the KSMA named after I.K. Akhunbayeva, Bishkek, Kyrgyz Republic
Nurbekova Uulbolsun Azhibekovna, Senior Researcher, National Center for Maternal and Child Health, Bishkek, Kyrgyz Republic

 

References

1. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/
2. Wu, Jennifer W. PhD; Pepler, Laura PhD; Maturi, Bridget MSc; Afonso, Alexandria C. F. PhD; Sarmiento, Janice PhD; Haldenby,Renee MSc. Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy. American Journal of Physical Medicine & Rehabilitation: June 2022 - Volume 101 - Issue 6 - p 590-608 doi:
10.1097/PHM.0000000000001869
3. Nance JR: Spinal muscular atrophy. Continuum (Minneap Minn) 2020;26:1348–68
4. Pera MC, Coratti G, Berti B, et al.: Diagnostic journey in spinal muscular atrophy: is it still an odyssey?PLoS One
2020;15:e0230677
5. Messina S, Sframeli M: New treatments in spinal muscular atrophy: positive results and new challenges. J Clin Med 2020;9:2222
6. Ludolph AC, Wurster CD. Therapeutic advances in SMA. Curr Opin Neurol. 2019 Oct;32(5):777-781. [PubMed]
7. Ramdas S, Servais L: New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 2020;21:307–15
8. Pierzchlewicz K, Kępa I, Podogrodzki J, et al.: Spinal muscular atrophy: the use of functional motor scales in the era of diseasemodifying treatment. Child Neurol Open 2021;8:2329048x211008725
9. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. [PubMed]
10. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K., UK SMA Research Consortium. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017 Aug 01;10(8):943-954. [PMC free article] [PubMed]
11. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Cardiac pathology in spinal muscular atrophy:a systematic review. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. [PMC free article] [PubMed]
12. Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother.2019 Jan;53(1):61-69. [PubMed]
13. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC., ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1723-1732. [PubMed]
14. Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. [PMC free article] [PubMed]
15. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1713-1722. [PubMed]
16. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res.2019 Jul-Sep;9(3):127-128. [PMC free article] [PubMed]
17. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019 Jul;79(11):1255-1262. [PubMed]
18. Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B,Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L. 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 Aug 09;61(15):6501-6517. [PubMed]
19. Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int J Mol Sci. 2020 May 07;21(9) [PMC free article] [PubMed]

For citation

Mamytova E.M., Мamytova M. M., Nurbekova U.A. Spinal muscular atrophy type 2: a case report. Health care of Kyrgyzstan 2022, No.4, pp. 54-60. https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54

Кыргызча
Авторлор жөнүндө

Мамытова Элмира Миталиповна, медицина илимдеринин доктору, доцент, И.К. Ахунбаев атындагы КММАнын акад. Мурзалиев А.М. атындагы неврология жана клиникалык генетика кафедрасынын башчысы, Бишкек, Кыргыз Республикасы

Мамытов Миталип Мамытович, медицина илимдеринин доктору, профессор, КР УИАнын академиги, И.К. Ахунбаев атындагы КММАнын Дипломго чейинки жана дипломдон кийинки билим берүүнүн нейрохирургиясы кафедрасынын башчысы, Бишкек, Кыргыз Республикасы

Нурбекова Уулболсун Ажибековна, Улуттук энелерди жана баланы коргоо борборунун улуу илимий кызматкери, Бишкек, Кыргыз Республикасы

 

Шилтемелер

1. Burr P, Reddivari AKR. Spinal Muscle Atrophy. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560687/
2. Wu, Jennifer W. PhD; Pepler, Laura PhD; Maturi, Bridget MSc; Afonso, Alexandria C. F. PhD; Sarmiento, Janice PhD; Haldenby,Renee MSc. Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy. American Journal of Physical Medicine & Rehabilitation: June 2022 - Volume 101 - Issue 6 - p 590-608 doi:
10.1097/PHM.0000000000001869
3. Nance JR: Spinal muscular atrophy. Continuum (Minneap Minn) 2020;26:1348–68
4. Pera MC, Coratti G, Berti B, et al.: Diagnostic journey in spinal muscular atrophy: is it still an odyssey?PLoS One
2020;15:e0230677
5. Messina S, Sframeli M: New treatments in spinal muscular atrophy: positive results and new challenges. J Clin Med 2020;9:2222
6. Ludolph AC, Wurster CD. Therapeutic advances in SMA. Curr Opin Neurol. 2019 Oct;32(5):777-781. [PubMed]
7. Ramdas S, Servais L: New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 2020;21:307–15
8. Pierzchlewicz K, Kępa I, Podogrodzki J, et al.: Spinal muscular atrophy: the use of functional motor scales in the era of diseasemodifying treatment. Child Neurol Open 2021;8:2329048x211008725
9. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. [PubMed]
10. Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K., UK SMA Research Consortium. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 2017 Aug 01;10(8):943-954. [PMC free article] [PubMed]
11. Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Cardiac pathology in spinal muscular atrophy:a systematic review. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. [PMC free article] [PubMed]
12. Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother.2019 Jan;53(1):61-69. [PubMed]
13. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC., ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1723-1732. [PubMed]
14. Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. [PMC free article] [PubMed]
15. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 02;377(18):1713-1722. [PubMed]
16. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res.2019 Jul-Sep;9(3):127-128. [PMC free article] [PubMed]
17. Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs. 2019 Jul;79(11):1255-1262. [PubMed]
18. Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B,Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L. 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 Aug 09;61(15):6501-6517. [PubMed]
19. Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int J Mol Sci. 2020 May 07;21(9) [PMC free article] [PubMed]

Цитата үчүн

Мамытова Э.М.,Мамытов М. М.,Нурбекова У.А. Жүлүн жана булчуң атрофиясы, 2-тип: клиникалык окуя. Кыргызстандын саламаттык сактоо 2022, no 4, б. 54-60. https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54

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