About This Activity

Activity Description and Learning Objectives

In this activity, experts in spinal muscular atrophy (SMA) discuss issues relating to the diagnosis of the disease, emerging treatment options and the fundamental role of the multidisciplinary team (MDT) in managing patients.

This activity has been jointly provided by Oakstone and touchIME. Oakstone Publishing is accredited by the ACCME to provide continuing medical education to physicians.

After watching this activity, participants should be better able to:


This activity is intended for neurologists, paediatricians, pulmonologists, primary care physicians and other healthcare professionals involved in the treatment of patients with SMA.


Spinal muscular atrophy

Faculty Disclosures

Oakstone Publishing has assessed conflict of interest with its faculty, authors, editors, and any individuals who were in a position to control the content of this CME activity. Any identified relevant conflicts of interest were resolved for fair balance and scientific objectivity of studies utilized in this activity. Oakstone Publishing’s planners, content reviewers, and editorial staff disclose no relevant commercial interests.

Dr Nancy Kuntz discloses: Grants/research support from Audentes, AveXis, Biogen, Sarepta and Solid Biosciences (funding to institution). Consultant/advisory boards for Argenyx, Audentes, AveXis, Biogen and Sarepta.

Dr Eduardo Tizzano discloses: Grants/research support from Ionis Pharmaceuticals and Biogen. Consultant/advisory boards for Biogen, Avexis, Cytokinetics, Roche and Biologix.

Dr Oscar H. Mayer discloses: Consultant/advisory boards for Biogen. Speakers bureau for Biogen.

Content Reviewer

Walter Murray Yarbrough, MD, FACP, has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Hannah Fisher has no financial interests/relationships or affiliations in relation to this activity.

Start Activity


CME Post-test

To obtain the CME credit(s), please complete this post-test. To help us assess the impact of the activity and to create further education, please also take a few minutes to complete the evaluation form.

Please complete and then click to see your results to continue.

70% is required to pass this test, please try again.
You passed the post-test. Click submit to complete the evaluation and claim your certificate

Q1. How does the administration of AVXS-101 differ from nusinersen?

  1. A. No difference – all spinal muscular atrophy therapies are given by intrathecal injection
  2. B. AVXS-101 is given by intravenous injection rather than intrathecal injection
  3. C. AVXS-101 is administered orally rather than parentally
  4. D. AVXS-101 should be administered regularly rather than as a single dose

Please try again

AVXS-101 is a single-dose gene therapy that is given by intravenous injection; nusinersen is given by intrathecal injection. There are orally administered pipeline therapies for spinal muscular atrophy currently in development.


Bowerman M, et al. Dis Model Mech. 2017;10:943–954.

Q2. Which of the following is true regarding genetic screening for spinal muscular atrophy (SMA)?

  1. A. SMA screening should only be implemented after 6 months of age
  2. B. Genetic screening is not appropriate for SMA detection
  3. C. SMA screening can be included as part of newborn screening for other diseases
  4. D. SMA screening is most effective when performed in utero

Please try again

Newborn screening for SMA can be included with routine newborn screening for other disorders during the first few days of life. SMA is now included in the Recommended Uniform Screening Panel for newborns in the USA.


HRSA. Newborn screening for spinal muscular atrophy. March 2018. Available at: https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/rusp/previous-nominations/sma-consumer-summary.pdf. Accessed: January 2020.

Q3. Which of the following factors would influence the choice between nusinersen and AVXS-101 as treatment for a child with spinal muscular atrophy?

  1. A. Whether the child was born prematurely
  2. B. Birthweight of the child
  3. C. Whether the initial diagnosis was made via genetic screening or clinical signs/symptoms
  4. D. Age of the child
  5. E. Whether the child has received any routine vaccinations

Please try again

AVXS-101 is recommended only for patients <2 years old while nusinersen can be used in all patients with spinal muscular atrophy.


Dangouloff T and Servais L. Ther Clin Risk Manag. 2019;15:1153–1161.

Q4. What is the mode of action of nusinersen?

  1. A. Increase transcription of SMN by providing a replacement copy of SMN1
  2. B. Stabilise the neuromuscular junction to improve neuromuscular transmission
  3. C. Promote transcription of full-length SMN from SMN2
  4. D. Increase skeletal muscle contractility and sensitivity to stimulation

Please try again

Nusinersen is an antisense oligonucleotide which promotes transcription of full-length SMN from SMN2.

SMN, survival motor neuron


Bowerman M, et al. Dis Model Mech. 2017;10:943–954.

Q5. Which member of the multidisciplinary team typically co-ordinates care for patients with spinal muscular atrophy?

  1. A. Pulmonologist
  2. B. Neurologist
  3. C. Occupational therapist
  4. D. Practice nurse
  5. E. Family or carers of the patient

Please try again

The patient’s neurologist should usually co-ordinate care for patients with spinal muscular atrophy – in the past this role was frequently left to the patient’s family or carers.


Mercuri E, et al. Neuromuscul Disord. 2018;28:103–115.

See Results
Credit Back To Education Zone


Presentation, diagnosis and management of SMA:
Multidisciplinary perspectives



Watch leading experts discuss the diagnosis and management of spinal muscular atrophy (SMA), including causes of diagnostic delay, emerging treatment approaches and the crucial role of the multidisciplinary team in the management of this disease.

Dr Nancy Kuntz (Ann & Robert H. Lurie Children’s Hospital of Chicago) discusses the diagnosis of SMA, Dr Eduardo Tizzano (Hospital Vall d’Hebron, Barcelona) reviews clinical management and emerging therapeutic options, and Dr Oscar H. Mayer (The Children’s Hospital of Philadelphia) describes the crucial role of multidisciplinary management.

This activity is intended for neurologists, paediatricians, pulmonologists, primary care physicians and other healthcare professionals involved in the treatment of patients with SMA.

Learning Objectives

After watching this touchEXPERT OPINIONS, you should be able to:

  • Identify patients at risk of spinal muscular atrophy (SMA) through genetic screening and recognize early symptoms in the disease course
  • Describe key trial and registry data (including antisense oligonucleotide and gene therapy) supporting improved treatment practice and outcomes in SMA patients
  • Discuss roles within the multidisciplinary team (MDT) and impact of a standardized treatment approach across the MDT including utilization of guidelines and treatment innovations for SMA patients in clinical practice