| → | CHOP INTEND |
| → | HFMSE |
| → | HINE |
| → | ULM、RULM |
| → | 6MWT |
- 複合式肌肉動作電位(CMAP)反應是一種測量特定肌肉或肌肉群組，接受到支配神經刺激後的電生理輸出信號23
- 運動單位數量估計(MUNE)是一種估算方法，估算在特定肌肉的收縮中，參與其中的運動單位‡數量24
‡運動單位包括運動神經元和受神經支配的肌纖維。25
部分脊髓性肌肉萎縮症患者的CMAP可能迅速下降22
趨勢線代表脊髓性肌肉萎縮病患CMAP的下降。 陰影區塊表示估計的正常值。
改編自Swoboda等人。22
一項臨床研究顯示，SMA嬰兒的平均CMAP峰值振幅為1.4 mV（標準差 = 2.2，n = 25），健康兒童為5.5 mV（標準差= 2.0，n = 27；P <0.01）。5
I型SMA患者的自然病史研究資料顯示，患者的CMAP振幅異常低下且在症狀出現後並無改善26
綠色的小圓點表示為其兄弟姐妹中有一位之前被診斷罹患SMA，在症狀發生前通過基因檢測確診的兒童。
改編自Swoboda等人。22
REFERENCES
1. Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810-817. 2. Montes J, Gordon AM, Pandya S, De Vivo DC, Kaufmann P. Clinical outcome measures in spinal muscular atrophy. J Child Neurol. 2009;24(8):968-978. 3. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015. 4. Mercuri E, Finkel R, Montes J, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord. 2016;26(2):123-131. 5. Kolb SJ, Coffey CS, Yankey JW, et al; the NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016;3(2):132-145. 6. Data on file. Biogen Inc, Cambridge, MA. 7. Haataja L, Mercuri E, Regev R. Optimality score for the neurologic examination of the infant at 12 and 18 months of age. J Pediatr. 1999;135(2 pt 1):153-161. 8. Romeo DM, Ricci D, Brogna C, Mercuri E. Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature. Dev Med Child Neurol. 2016;58(3):240-245. 9. De Sanctis R, Coratti G, Pasternak A, et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016;26(11):754-759. 10. Glanzman AM, Mazzone E, Main M, et al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20(3):155-161. 11. Glanzman AM, McDermott MP, Montes J. Validation of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011;23(4):322-326. 12. Spinal Muscular Atrophy Clinical Research Center. CHOP INTEND for SMA Type I score sheet. http://columbiasma.org/links.html. Updated March 14, 2013. Accessed April 26, 2016. 13. Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016; 388(10063):3017-3026. 14. Glanzman AM, O’Hagen JM, McDermott MP, et al; the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR), and the Muscle Study Group (MSG). Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011;26(12):1499-1507. 15. The Pediatric Neuromuscular Clinical Research Network for SMA. Expanded Hammersmith Functional Motor Scale for SMA (HFMSE). http://columbiasma.org/links.html. March 7, 2009. Accessed April 25, 2016. 16. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889-1897. 17. Sivo S, Mazzone E, De Sanctis, et al. Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes. Neuromuscul Disord. 2015;25(3):212-215. 18. Mazzone E, Bianco F, Martinelli D, et al. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 2011;21(6):406-412. 19. Mazzone ES, Mayhew A, Montes J, et al. Revised Upper Limb Module for spinal muscular atrophy: development of a new module. Muscle Nerve. 2016. doi:10.1002/mus.25430. 20. Montes J, McDermott MP, Martens WB, et al. Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;74(10):833-838. 21. Mazzone E, Bianco F, Main M, et al. Six minute walk test in type III spinal muscular atrophy: a 12 month longitudinal study. Neuromuscul Disord. 2013;23(8):624-628. 22. Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005;57(5):704-712. 23. Arnold WD, Sheth KA, Wier CG, et al. Electrophysiological motor unit number estimation (MUNE) measuring compound muscle action potential (CMAP) in mouse hindlimb muscles. J Vis Exp. 2015;103:1-8. 24. Bromberg MB, Swoboda KJ. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002;25(3):445-447. 25. Monti RJ, Roy RR, Edgerton VR. Role of motor unit structure in defining function. Muscle Nerve. 2001;1;24(7):848-866. 26. Finkel RS. Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. Neuromuscul Disord. 2013;23(2):112-115.
SMA患者的基本活動能力與病情進展如何決定日常活動與生活方式？
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