For Physicians
Standard of Care

A Consensus Statement for Standard of Care in Spinal Muscular Atrophy was published in the Journal of Child Neurology's August 2007 Issue. Dr. Ching Wang, who serves as the Hope and Light Medical Director, was the leading force behind the publication of the consensus statement. To read a summary of the most relevant points in the document, visit the Stanford SMA site.

A Family Guide to the Consensus Statement was also published and can be accessed on our Family page.

Clinical Care

Spinal muscular atrophy: advances in research and consensus on care of patients.
Wang CH, Lunn MR. Curr Treat Options Neurol. 2008 Nov;10(6):420-8

Diagnosis and clinical management of spinal muscular atrophy.
Han JJ, McDonald CM. Phys Med Rehabil Clin N Am. 2008 Aug;19(3):661-80, xii.

Understanding the experience of living with spinal muscular atrophy: a qualitative description.
Lamb C, Peden A. J Neurosci Nurs. 2008 Aug;40(4):250-6.

Clinical trials in spinal muscular atrophy. Kaufmann P, Iannaccone ST.
Phys Med Rehabil Clin N Am. 2008 Aug;19(3):653-60, xii

Survival in SMA type I: a prospective analysis of 34 consecutive cases.
Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M.
Neuromuscul Disord. 2008 Jul;18(7):541-4.

Spinal muscular atrophy.
Lunn MR, Wang CH. Lancet. 2008 Jun 21;371(9630):2120-33

Losing a child to spinal muscular atrophy.
Chad T. Paediatr Nurs. 2008 Apr;20(3):32-3.

Non-invasive brain-computer interface system: towards its application as assistive technology.
Cincotti F, Mattia D, Aloise F, Bufalari S, Schalk G, Oriolo G, Cherubini A, Marciani MG, Babiloni F. Brain Res Bull. 2008 Apr 15;75(6):796-803.

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.
Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM. Am J Med Genet A. 2008 Mar 15;146A(6):740-4.

Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives.
Meldrum C, Scott C, Swoboda KJ. J Child Neurol. 2007 Aug;22(8):1019-26.

The changing natural history of spinal muscular atrophy type 1.
Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P
Neurology. 2007 Nov 13;69(20):1931-6.


Respiratory aids offer hope for neuromuscular disease.
John R. Bach

Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases.
Fauroux B, Guillemot N, Aubertin G, Nathan N, Labit A, Clément A, Lofaso F.
Chest. 2008 Jan;133(1):161-8.

Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness.
Chatwin M, Ross E, Hart N, Nickol AH, Polkey MI, Simonds AK.
Eur Respir J. 2003 Mar;21(3):502-8.

Spinal muscular atrophy type 1: A noninvasive respiratory management approach.
Bach JR, Niranjan V, Weaver B. Chest. 2000 Apr;117(4):1100-5.

Respiratory Infections:

Viral respiratory infections in children with technology dependence and neuromuscular disorders.
Panitch HB. Pediatr Infect Dis J. 2004 Nov;23

Variable morbidity of respiratory syncytial virus infection in patients with underlying lung disease: a review of the PICNIC RSV database. Pediatric Investigators Collaborative Network on Infections in Canada.
Arnold SR, Wang EE, Law BJ, Boucher FD, Stephens D, Robinson JL, Dobson S, Langley JM, McDonald J, MacDonald NE, Mitchell I. Pediatr Infect Dis J. 1999 Oct;18(10):866-9.


Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I.
Durkin ET, Schroth MK, Helin M, Shaaban AF. J Pediatr Surg. 2008 Nov;43(11):2031-7.

Feeding problems and malnutrition in spinal muscular atrophy type II.
Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Bertini E, Mercuri E. Neuromuscul Disord. 2008 May;18(5):389-93. Epub 2008 Apr 16.

Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy.
Yuan N, Wang CH, Trela A, Albanese CT. J Child Neurol. 2007 Jun;22(6):727-31.


Low bone mineral density in spinal muscular atrophy.
Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST.
J Clin Neuromuscul Dis. 2008 Sep;10(1):11-7.

Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude.
Deymeer F, Serdaroglu P, Parman Y, Poda M.
Neurology. 2008 Aug 26;71(9):644-9.

Muscle ultrasound in neuromuscular disorders.
Pillen S, Arts IM, Zwarts MJ. Muscle Nerve. 2008 Jun;37(6):679-93.

Musculoskeletal complications of neuromuscular disease in children.
Driscoll SW, Skinner J. Phys Med Rehabil Clin N Am. 2008 Feb;19(1):163-94, viii.

Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse.
Biondi O, Grondard C, Lécolle S, Deforges S, Pariset C, Lopes P, Cifuentes-Diaz C, Li H, della Gaspera B, Chanoine C, Charbonnier F. J Neurosci. 2008 Jan 23;28(4):953-62.

Diagnosis and Tests

SMN1 gene deletion test

SMN2 gene deletion test

Carrier Screening for Spinal Muscular Atrophy

For basic science, clinical trials and research news, visit our Research page.


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