Exploring New Perspectives in the Treatment and Management of Spinal Muscular Atrophy

A continuing medical education activity sponsored by NAMCP and AAMCN.

This activity is an archive from the live session from the 2019 Spring Managed Care Forum. If you participated in the live session, you are not eligible for continuing education credits from this archive.

This activity is valid from June 1, 2019 to June 1, 2020

Instructions for CME/CNE: Complete the pre-test, listen to the audio and view the slides, complete the post test, complete the evaluation form and hit submit. You will be asked to enter your name and email address on the pre-test, evaluation and post-test. If you close your internet browser without completing the post test, you will have ONE more opportunity to complete. A score of 70% must be achieved on the post test to receive continuing education credits. If you do not pass the post test after two attempts, you will not be eligible to try again. Once you complete the evaluation form and score 70% or higher on your post test, you will automatically be given your certificate.

To print or save your certificate, you will need to click on the “download” button and either print or save.


Audience: This activity is intended for healthcare professionals practicing in managed care environments.

This presentation is supported by an educational grant from
AveXis Inc.

Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. Without a proper level of SMN protein, motor neurons in the spinal cord will be lost, preventing the body’s muscles from receiving signals from the brain. This can lead to progressive muscle weakness and wasting. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I is typically evident at birth to the first few months of age. Type II usually begins between 6 and 18 months of age and Type III usually appears between 2 and 17 years of age. Most cases of SMA are inherited as an autosomal recessive trait, although dominant families are known. This neuromuscular disease is the second most common lethal autosomal recessive disorder in white populations with an overall incidence of 1 in 10,000 live births and a carrier frequency of about 1/50.

The first steps in diagnosis of a neuromuscular disease are usually an in-office physical examination with questions centered around family history, and simple blood tests that can indicate whether there are deletions or mutations of the SMN1 gene. Other diagnostic methods include genetic testing, if SMA is suspected, and electromyography. CT Scans, MRIs, and biopsy procedures can also help identify if SMA is present. Treating and managing spinal muscular atrophy requires a collaborative and multidisciplinary approach. Although there is no cure, there are current and emerging treatments that will help manage the symptoms and prevent complications. One such treatment is nusinersen, is an antisense oligonucleotide (ASO) that increases the expression of a functional SMN protein. Treatments also include different muscle relaxants that may reduce spasticity as well as symptoms such as jaw spasms and drooling. And then physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. Promising results from clinical trials indicate that several additional treatment options, such as gene replacement therapy, could be available for patients with SMA in the near future.

Upon completion of this activity, participants will be able to:

  • Analyze the safety and efficacy for current and emerging treatments of spinal muscular atrophy (SMA), including those in clinical trials with a focus on gene replacement therapy

  • Discuss the importance of early diagnosis and the diagnostic criteria for SMA, including the role of genetic testing

  • Identify the clinical features and pathology of SMA

  • Assess the role and impact of genetics as it relates to the pathophysiology and investigational therapeutics of SMA

  • Evaluate key clinical trial data on current and emerging treatments, including the clinical implications of gene therapy for SMA

Faculty: Julie Parsons, MD
Co-Director, Neuromuscular Clinic
Haberfeld Family Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Practice, Pediatrics-Neurology
Children’s Hospital Colorado


Dr. Parsons serves on an advisory board for AveXis, Biogen, and Sarepta. She has received research/grant support from AveXis, Biogen, Cytokinetics, Sarepta, and Scholar Rock. Her presentation has been peer reviewed for any bias.
  Planning Committee:
Bill Williams, MD has no relevant financial relationships to disclose.
Jeremy Williams has no relevant financial relationships to disclose.
Will Williams has no relevant financial relationships to disclose.
Jacqueline Cole, RN, MS, CMCN has no relevant financial relationships to disclose.

NAMCP and/or the presenter has copyright or has received permissions for use of materials provided in this activity.

Accreditation & Designation
The National Association of Managed Care Physicians (NAMCP) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

NAMCP designates this enduring material for a maximum of 1 AMA PRA Category I creditsTM.

The American Association of Managed Care Nurses (AAMCN) is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC).

Nurses who complete this activity and achieve a passing score will receive 1 hour in continuing
nursing credit.

This activity has been approved by the American Board of Managed Care Nursing for 1.0 contact hour toward CMCN recertification requirements.

This presentation is supported by an educational grant from
AveXis Inc.

NAMCP and/or this website does not provide medical advice, diagnosis or treatment. NAMCP does not endorse or imply endorsement of the content on any linked website. This website is to be used as an informational resource. With any health related concern, consult with your physician or healthcare professional.

Click Here To Continue