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Spinal muscular atrophy type 2: a case report

https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54
Spinal muscular atrophy type 2: a case report
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Abstract About the authors References

Abstract

The problem of orphan diseases at all times aroused great interest among practitioners, since, despite their rarity, they are of great importance for a particular patient and his entire family. This article provides a brief description of the clinical forms and presents a clinical case of spinal muscular atrophy (SMA) type II in a 3-year-old child. SMA in a child manifested at 13 months of age. Establishing the diagnosis of this pathology requires the joint efforts of neurologists, orthopedists, and geneticists in order to conduct timely diagnosis, including the use of molecular genetic methods. The diagnosis of spinal muscular atrophy in a small patient was established on the basis of the clinical syndrome of progressive muscle weakness and confirmed by laboratory and instrumental methods. In particular: a DNA study was carried out, as a result of which a deletion of exons 7-8 of the SMN gene was registered in the homozygous state. Electroneuromyography (ENMG) revealed a generalized lesion of the motor neurons of the spinal cord, which is characteristic of SMA. MRI of the brain and spinal cord, blood tests for creatine phosphokinase and creatinine showed no abnormalities. Taking into account clinical, laboratory and instrumental data, the diagnosis was made: G 12. Hereditary neuromuscular disease. Spinal muscular atrophy, type 2. Peripheral tetraparesis. Spinal muscular atrophy is, as mentioned earlier, a rare disease and each verified case should be well described and documented. Patients with severe muscle hypotension syndrome and muscle weakness should be promptly referred for examination by a geneticist in order to rule out other possible genetic pathologies. The diagnosis of SMA is always a tragedy for the parents of a child, as there is currently no cure for this disease. Treatment depends on the type of SMA and symptoms. The little patient was registered for long-term follow-up, an individual program was developed for the correction of motor and musculoskeletal disorders, as well as for the prevention of secondary complications.

About the authors

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

 

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]

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]

Keywords
children , spinal muscular atrophy , type 2 , Diagnosis
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
Authors Mamytova E.M., Mamytov M.M., Nurbekova U.A.
Link doi.org https://dx.doi.org/10.51350/zdravkg2022.4.10.7.54
Pages 54-60
Keywords children, spinal muscular atrophy, type 2, Diagnosis
Russian
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

 
Полный текст

PDF (RUS)
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
English
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
Kyrgyz
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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