Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

Mercuri E, Pera MC, Scoto M et al (2020) Spinal muscular atrophy—insights and challenges in the treatment era. Nat Rev Neurol 16:706–715. https://doi.org/10.1038/s41582-020-00413-4

Article  CAS  PubMed  Google Scholar 

Dubowitz V (1991) Chaos in classification of the spinal muscular atrophies of childhood. Neuromuscul Disord 1:77–80. https://doi.org/10.1016/0960-8966(91)90051-S

Article  CAS  PubMed  Google Scholar 

Dubowitz V (1995) Chaos in the classification of SMA: a possible resolution. Neuromuscul Disord 5:3–5. https://doi.org/10.1016/0960-8966(94)00075-K

Article  CAS  PubMed  Google Scholar 

Mercuri E, Bertini E, Iannaccone ST (2012) Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 11:443–452. https://doi.org/10.1016/S1474-4422(12)70061-3

Article  PubMed  Google Scholar 

Annoussamy M, Seferian AM, Daron A et al (2021) Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Ann Clin Transl Neurol 8:359–373. https://doi.org/10.1002/acn3.51281

Article  CAS  PubMed  Google Scholar 

Coratti G, Cutrona C, Pera MC et al (2021) Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis. Orphanet J Rare Dis 16:430. https://doi.org/10.1186/s13023-021-02065-z

Chiriboga CA (2017) Nusinersen for the treatment of spinal muscular atrophy. Expert Rev Neurother 17:955–962. https://doi.org/10.1080/14737175.2017.1364159

Article  CAS  PubMed  Google Scholar 

Mercuri E, Darras BT, Chiriboga CA et al (2018) Nusinersen versus Sham control in later-onset spinal muscular atrophy. N Engl J Med 378:625–635. https://doi.org/10.1056/nejmoa1710504

Article  CAS  PubMed  Google Scholar 

Mercuri E, Deconinck N, Mazzone ES et al (2022) Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Lancet Neurol 21:42–52. https://doi.org/10.1016/S1474-4422(21)00367-7

Article  CAS  PubMed  Google Scholar 

Darras BT, Masson R, Mazurkiewicz-Bełdzińska M et al (2021) Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls. N Engl J Med 385:427–435. https://doi.org/10.1056/NEJMoa2102047

Article  CAS  PubMed  Google Scholar 

Maggi L, Bello L, Bonanno S et al (2020) Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J Neurol Neurosurg Psychiatry 91:1166–1174. https://doi.org/10.1136/jnnp-2020-323822

Article  PubMed  Google Scholar 

Hagenacker T, Wurster CD, Günther R et al (2020) Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol 19:317–325. https://doi.org/10.1016/S1474-4422(20)30037-5

Article  CAS  PubMed  Google Scholar 

Baranello G, Gorni K, Daigl M et al (2021) Prognostic factors and treatment-effect modifiers in spinal muscular atrophy. Clin Pharmacol Ther. https://doi.org/10.1002/cpt.2247

Article  PubMed  PubMed Central  Google Scholar 

Erdos J, Wild C (2022) Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: a systematic review of real-world study data. Eur J Paediatr Neurol 39:1–10

Article  CAS  PubMed  Google Scholar 

Pechmann A, Behrens M, Dörnbrack K et al (2022) Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-year SMArtCARE registry study. Orphanet J Rare Dis. https://doi.org/10.1186/s13023-022-02547-8

Article  PubMed  PubMed Central  Google Scholar 

Coratti G, Lucibello S, Pera MC et al (2020) Gain and loss of abilities in type II SMA: a 12-month natural history study. Neuromuscul Disord 30:765–771. https://doi.org/10.1016/j.nmd.2020.07.004

Article  PubMed  Google Scholar 

Kaufmann P, McDermott MP, Darras BT et al (2012) Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 79:1889–1897. https://doi.org/10.1212/WNL.0b013e318271f7e4

Article  PubMed  PubMed Central  Google Scholar 

Coratti G, Pera MC, Montes J et al (2021) Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle Nerve 64:552–559. https://doi.org/10.1002/mus.27384

Article  PubMed  PubMed Central  Google Scholar 

Milev E, Selby V, Wolfe A et al (2024) Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy types 2 and 3. Muscle Nerve. https://doi.org/10.1002/mus.28041

Article  PubMed  Google Scholar 

Wolfe A, Stimpson G, Ramsey D et al (2024) Disease trajectories in the revised hammersmith scale in a cohort of untreated patients with spinal muscular atrophy types 2 and 3. J Neuromuscul Dis 11:665–677. https://doi.org/10.3233/JND-230211

Article  PubMed  PubMed Central  Google Scholar 

Coratti G, Civitello M, Rohwer A et al (2024) Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the revised upper limb module. Neuromuscul Disord 44:104449. https://doi.org/10.1016/j.nmd.2024.08.006

Article  PubMed  Google Scholar 

Mercuri E, Lucibello S, Pera MC et al (2019) Long-term progression in type II spinal muscular atrophy: a retrospective observational study. Neurology 93:e1241–e1247. https://doi.org/10.1212/WNL.0000000000008166

Article  PubMed  PubMed Central  Google Scholar 

Coratti G, Pane M, Lucibello S et al (2021) Age related treatment effect in type II spinal muscular atrophy pediatric patients treated with nusinersen. Neuromuscul Disord. https://doi.org/10.1016/j.nmd.2021.03.012

Article  PubMed  Google Scholar 

Mazzone ES, Mayhew A, Montes J et al (2017) Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve 55:869–874. https://doi.org/10.1002/mus.25430

Article  PubMed  Google Scholar 

Mazzone E, Bianco F, Martinelli D et al (2011) Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord 21:406–412. https://doi.org/10.1016/j.nmd.2011.02.014

Article  PubMed  Google Scholar 

Coratti G, Carmela Pera M, Montes J et al (2022) Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscul Disord 32:36–42. https://doi.org/10.1016/j.nmd.2021.10.009

Article  PubMed  Google Scholar 

Coratti G, Pera MC, Lucibello S et al (2020) Age and baseline values predict 12 and 24-month functional changes in type 2 SMA. Neuromuscul Disord 30:756–764. https://doi.org/10.1016/j.nmd.2020.07.005

Article  PubMed  Google Scholar 

Pera MC, Coratti G, Mazzone ES et al (2019) Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle Nerve 59:426–430. https://doi.org/10.1002/mus.26419

Article  PubMed  Google Scholar 

Seferian AM, Moraux A, Canal A et al (2015) Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial. PLoS ONE 10:e0121799. https://doi.org/10.1371/journal.pone.0121799

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sivo S, Mazzone E, Antonaci L et al (2015) Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes. Neuromuscul Disord 25:212–215. https://doi.org/10.1016/j.nmd.2014.11.008

Article  PubMed  Google Scholar 

Segovia-Simon S, Nungo C, Costa JV et al (2022) P.42 CuidAME: registry for longitudinal data collection of Spanish SMA patients. Neuromuscul Disord 32:S60.

Comments (0)

No login
gif