Muller-Felber W, Vill K, Schwartz O, Glaser D, Nennstiel U, Wirth B, et al. Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening - opportunity or burden? J Neuromuscul Dis. 2020. https://doi.org/10.3233/JND-200475.

Article  PubMed  PubMed Central  Google Scholar 

Vill K, Schwartz O, Blaschek A, Glaser D, Nennstiel U, Wirth B, et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis. 2021. https://doi.org/10.1186/s13023-021-01783-8.

Article  PubMed  PubMed Central  Google Scholar 

Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999. https://doi.org/10.1086/302369.

Article  PubMed  PubMed Central  Google Scholar 

Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995. https://doi.org/10.1016/0092-8674(95)90460-3.

Article  PubMed  Google Scholar 

Willig TN, Paulus J, Lacau Saint Guily J, Beon C, Navarro J. Swallowing problems in neuromuscular disorders. Arch Phys Med Rehabil. 1994. https://doi.org/10.1016/0003-9993(94)90001-9.

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

van Bruggen HW, Wadman RI, Bronkhorst EM, Leeuw M, Creugers N, Kalaykova SI, et al. Mandibular dysfunction as a reflection of bulbar involvement in SMA type 2 and 3. Neurology. 2016. https://doi.org/10.1212/WNL.0000000000002348.

Article  PubMed  Google Scholar 

Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997. https://doi.org/10.1038/ng0797-265.

Article  PubMed  Google Scholar 

Calucho M, Bernal S, Alias L, March F, Vencesla A, Rodriguez-Alvarez FJ, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018. https://doi.org/10.1016/j.nmd.2018.01.003.

Article  PubMed  Google Scholar 

Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002. https://doi.org/10.1086/338627.

Article  PubMed  PubMed Central  Google Scholar 

Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000. https://doi.org/10.1002/(SICI)1098-1004(200003)15:3%3c228::AID-HUMU3%3e3.0.CO;2-9.

Article  PubMed  Google Scholar 

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017. https://doi.org/10.1056/NEJMoa1702752.

Article  PubMed  Google Scholar 

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018. https://doi.org/10.1056/NEJMoa1710504.

Article  PubMed  Google Scholar 

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018. https://doi.org/10.1016/j.nmd.2017.11.005.

Article  PubMed  Google Scholar 

Granger MW, Buschang PH, Throckmorton GS, Iannaccone ST. Masticatory muscle function in patients with spinal muscular atrophy. Am J Orthod Dentofacial Orthop. 1999;115:697–702.

Article  CAS  PubMed  Google Scholar 

van den Engel-Hoek L, Erasmus CE, van Bruggen HW, de Swart BJ, Sie LT, Steenks MH, et al. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem? Neurology. 2009. https://doi.org/10.1212/WNL.0b013e3181c34aa6.

Article  PubMed  Google Scholar 

Wadman RI, van Bruggen HW, Witkamp TD, Sparreboom-Kalaykova SI, Stam M, van den Berg LH, et al. Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia. Neurology. 2014. https://doi.org/10.1212/WNL.0000000000000796.

Article  PubMed  Google Scholar 

Hagberg C. Assessment of bite force: a review. J Craniomandib Disord. 1987;1:162–9.

CAS  PubMed  Google Scholar 

Mano T, Katsuno M, Banno H, Suzuki K, Suga N, Hashizume A, et al. Tongue pressure as a novel biomarker of spinal and bulbar muscular atrophy. Neurology. 2014. https://doi.org/10.1212/WNL.0000000000000041.

Article  PubMed  Google Scholar 

van der Heul AMB, van Eijk RPA, Wadman RI, Asselman F, Cuppen I, Nievelstein RAJ, et al. Mastication in patients with spinal muscular atrophy types 2 and 3 is characterized by abnormal efficiency, reduced endurance, and fatigue. Dysphagia. 2021. https://doi.org/10.1007/s00455-021-10351-y.

Article  PubMed  PubMed Central  Google Scholar 

Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006. https://doi.org/10.1093/brain/awl096.

Article  PubMed  Google Scholar 

Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, et al. Hammersmith functional motor scale and motor function measure-20 in non ambulant SMA patients. Neuromuscul Disord. 2014. https://doi.org/10.1016/j.nmd.2014.01.003.

Article  PubMed  Google Scholar 

Stam M, Wadman RI, Bartels B, Leeuw M, Westeneng HJ, Wijngaarde CA, et al. A continuous repetitive task to detect fatigability in spinal muscular atrophy. Orphanet J Rare Dis. 2018. https://doi.org/10.1186/s13023-018-0904-5.

Article  PubMed  PubMed Central  Google Scholar 

Finkel R, Bertini E, Muntoni F, Mercuri E, Group ESWS. 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands. Neuromuscul Disord. 2015; doi:https://doi.org/10.1016/j.nmd.2015.04.009.

Hagenacker T, Wurster CD, Gunther R, Schreiber-Katz O, Osmanovic A, Petri S, et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol. 2020. https://doi.org/10.1016/S1474-4422(20)30037-5.

Article  PubMed  Google Scholar 

Kruse T, Heller R, Wirth B, Gloggler J, Wurster CD, Ludolph AC, et al. Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy-a pilot study. Acta Myol. 2020. https://doi.org/10.36185/2532-1900-010.

Article  PubMed  PubMed Central  Google Scholar 

Kluger BM, Krupp LB, Enoka RM. Fatigue and fatigability in neurologic illnesses: proposal for a unified taxonomy. Neurology. 2013. https://doi.org/10.1212/WNL.0b013e31827f07be.

Article  PubMed  PubMed Central  Google Scholar 

Pageaux B, Lepers R. Fatigue induced by physical and mental exertion increases perception of effort and impairs subsequent endurance performance. Front Physiol. 2016. https://doi.org/10.3389/fphys.2016.00587.

Article  PubMed  PubMed Central  Google Scholar 

Adams V, Mathisen B, Baines S, Lazarus C, Callister R. A systematic review and meta-analysis of measurements of tongue and hand strength and endurance using the Iowa Oral Performance Instrument (IOPI). Dysphagia. 2013. https://doi.org/10.1007/s00455-013-9451-3.

Article  PubMed  Google Scholar 

McGraw S, Qian Y, Henne J, Jarecki J, Hobby K, Yeh WS. A qualitative study of perceptions of meaningful change in spinal muscular atrophy. BMC Neurol. 2017. https://doi.org/10.1186/s12883-017-0853-y.

Article  PubMed  PubMed Central  Google Scholar 

Bartels B, Habets LE, Stam M, Wadman RI, Wijngaarde CA, Schoenmakers M, et al. Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests. BMC Neurol. 2019. https://doi.org/10.1186/s12883-019-1244-3.

Article  PubMed  PubMed Central  Google Scholar 

Montes J, Dunaway S, Montgomery MJ, Sproule D, Kaufmann P, De Vivo DC, et al. Fatigue leads to gait changes in spinal muscular atrophy. Muscle Nerve. 2011. https://doi.org/10.1002/mus.21917.

Article  PubMed  Google Scholar 

Mongiovi P, Dilek N, Garland C, Hunter M, Kissel JT, Luebbe E, et al. Patient reported impact of symptoms in spinal muscular atrophy (PRISM-SMA). Neurology. 2018. https://doi.org/10.1212/WNL.0000000000006241.

Article  PubMed  PubMed Central  Google Scholar 

Bartels B, de Groot JF, Habets LE, Wijngaarde CA, Vink W, Stam M, et al. Fatigability in spinal muscular atrophy: validity and reliability of endurance shuttle tests. Orphanet J Rare Dis. 2020. https://doi.org/10.1186/s13023-020-1348-2.

Article  PubMed  PubMed Central  Google Scholar 

Kruse T, Lehmann HC, Braumann B, Fink GR, Wunderlich G. The maximum bite force for treatment evaluation in severely affected adult SMA patients-protocol for a longitudinal study. Front Neurol. 2020. https://doi.org/10.3389/fneur.2020.00139.

Article  PubMed  PubMed Central  Google Scholar 

Robbins J, Levine R, Wood J, Roecker EB, Luschei E. Age effects on lingual pressure generation as a risk factor for dysphagia. J Gerontol A Biol Sci Med Sci. 1995. https://doi.org/10.1093/gerona/50a.5.m257.

Article  PubMed  Google Scholar 

Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics. 1977;33:159–74.

Article  CAS  PubMed  Google Scholar 

Thompson DJ, Throckmorton GS, Buschang PH. The effects of isometric exercise on maximum voluntary bite forces and jaw muscle strength and endurance. J Oral Rehabil. 2001;28:909–17.

Article