Bradley WG, ed. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa: Butterworth-Heinemann/Elsevier; 2008.
Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 4th ed. Philadelphia, Pa: Saunders/Elsevier; 2008.
Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007 Aug. 22(8):1027-49. [QxMD MEDLINE Link].
Russman BS, Buncher CR, White M, et al. Function changes in spinal muscular atrophy II and III. The DCN/SMA Group. Neurology. 1996 Oct. 47(4):973-6. [QxMD MEDLINE Link].
Moosa A, Dubowitz V. Spinal muscular atrophy in childhood. Two clues to clinical diagnosis. Arch Dis Child. 1973 May. 48(5):386-8. [QxMD MEDLINE Link]. [Full Text].
Umphred DA, ed. Neurological Rehabilitation. 5th ed. St Louis, Mo: Mosby Elsevier; 2007.
Merlini L, Granata C, Bonfiglioli S, et al. Scoliosis in spinal muscular atrophy: natural history and management. Dev Med Child Neurol. 1989 Aug. 31(4):501-8. [QxMD MEDLINE Link].
Querin G, El Mendili MM, Lenglet T, et al. The spinal and cerebral profile of adult spinal-muscular atrophy: a multimodal imaging study. Neuroimage Clin. 2018 Nov 28. [QxMD MEDLINE Link].
Zerres K, Rudnik-Schöneborn S, Forrest E, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997 Feb 27. 146(1):67-72. [QxMD MEDLINE Link].
Ioos C, Leclair-Richard D, Mrad S, et al. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. 2004 Sep. 126(3):831-7. [QxMD MEDLINE Link]. [Full Text].
Lin LC, Jong YJ. Pulmonary function assessment in patients with spinal muscular atrophy type II and type III. Acta Paediatr Taiwan. 2004 Jan-Feb. 45(1):15-8. [QxMD MEDLINE Link].
Muscular Dystrophy Campaign sponsored workshop: recommendation for respiratory care of children with SMA type II and III. Neuromuscular Disord. 2003. 13:184-189.
Viguier A, Lauwers-Cances V, Cintas P, et al. Spinal muscular atrophy with respiratory distress type 1: a multicenter retrospective study. Neuromuscul Disord. 2018 Oct 31. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
Souza PVS, Pinto WBVR, Ricarte A, et al. Clinical and radiological profile of patients with spinal muscular atrophy type 4. Eur J Neurol. 2021 Feb. 28 (2):609-19. [QxMD MEDLINE Link].
Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol. 2008 Jul 16. [QxMD MEDLINE Link].
Mattis VB, Bowerman M, Kothary R, et al. A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein. Neurosci Lett. 2008 Jun 26. [QxMD MEDLINE Link].
Sedghi M, Behnam M, Fazel E, et al. Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran. Adv Biomed Res. 2014. 3:74. [QxMD MEDLINE Link]. [Full Text].
Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002 Dec. 111(6):477-500. [QxMD MEDLINE Link].
Wang CC, Chang JG, Ferrance J, et al. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. 2008 Jul. 29(13):2904-11. [QxMD MEDLINE Link].
Madsen KL, Hansen RS, Preisler N, Thogersen F, Berthelsen MP, Vissing J. Training improves oxidative capacity, but not function, in spinal muscular atrophy type III. Muscle Nerve. 2015 Aug. 52 (2):240-4. [QxMD MEDLINE Link].
Rodillo E, Marini ML, Heckmatt JZ, et al. Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol. 1989 Apr. 4(2):118-23. [QxMD MEDLINE Link].
Trucco F, Ridout D, Scoto M, et al. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. Neurology. 2021 Jan 26. 96 (4):e587-99. [QxMD MEDLINE Link]. [Full Text].
Young SD, Montes J, Kramer SS, Podwika B, Rao AK, De Vivo DC. Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study. J Neuromuscul Dis. 2018 Dec 14. [QxMD MEDLINE Link].
Puruckherr M, Mehta JB, Girish MR, et al. Severe obstructive sleep apnea in a patient with spinal muscle atrophy. Chest. 2004 Nov. 126(5):1705-7. [QxMD MEDLINE Link]. [Full Text].
Yasuma F, Kuru S, Konagaya M. Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. Intern Med. 2004 Oct. 43(10):951-4. [QxMD MEDLINE Link]. [Full Text].
Swoboda KJ, Kissel JT, Crawford TO, et al. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007 Aug. 22(8):957-66. [QxMD MEDLINE Link].
US Food and Drug Administration. SPINRAZA (nusinersen) injection, for intrathecal use. FDA. Available at https://www.accessdata.fda.gov/drugsatfda_docs/label/2016/209531lbl.pdf. Revised December 2016; Accessed: November 17, 2020.
US Food and Drug Administration. FDA approves first drug for spinal muscular atrophy. FDA. Available at https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-spinal-muscular-atrophy. December 23, 2016; Accessed: November 17, 2020.
US Food and Drug Administration. FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality. FDA. Available at https://www.fda.gov/news-events/press-announcements/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease. May 24, 2019; Accessed: November 17, 2020.
US Food and Drug Administration. FDA Approves Oral Treatment for Spinal Muscular Atrophy. FDA. Available at https://www.fda.gov/news-events/press-announcements/fda-approves-oral-treatment-spinal-muscular-atrophy. August 7, 2020; Accessed: November 17, 2020.
Il'ina NA, Antipova RI, Khokhlov AP. [Use of lithium carbonate to treat Kugelberg--Welander spinal amyotrophy]. Zh Nevropatol Psikhiatr Im S S Korsakova. 1980. 80(11):1657-60. [QxMD MEDLINE Link].
Tzeng AC, Cheng J, Fryczynski H, et al. A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report. Am J Phys Med Rehabil. 2000 Sep-Oct. 79(5):435-40. [QxMD MEDLINE Link].
Merlini L, Solari A, Vita G, et al. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol. 2003 Aug. 18(8):537-41. [QxMD MEDLINE Link].