Current Updates and Advances in Diagnosis and Treatment of Spinal Muscular Atrophy

A continuing medical education activity provided by NAMCP and AAMCN

This activity is an archive from the live session from the 2020 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 July 1, 2020 to July 1, 2021

Instructions for CME/NCPD: 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.

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

This activity is supported by an educational grant from

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. 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 step in the diagnosis of a neuromuscular disease are usually an in-office physical examination with questions centered around family history, with some simple blood tests that can indicate whether there are deletions or mutations of the SMN1 gene. 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 of the more promising treatments can be administered by intrathecal injection into the fluid surrounding the spinal cord and is an antisense oligonucleotide (ASO) that increases the expression of a functional SMN protein. Another treatment involves gene therapy designed to deliver a copy of the SMN1 gene to motor neurons in SMA patients. Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy.

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

  • Analyze the safety and efficacy data of current and investigational treatments to guide management decisions for spinal muscular atrophy (SMA)

  • Discuss appropriate use of assessment tools and testing to better understand diagnostic methods and clinical changes in patients with SMA

  • Assess different unmet needs in the management of SMA for a clear understanding on how these gaps will be closed with current and emerging treatment strategies

  • Evaluate key clinical evidence on the role of genetic testing for patients with SMA

  • Describe clinical perspectives and recommendations for a comprehensive care plan for patients with SMA

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


Dr. Parsons serves on an advisory board to AveXis, Biogen, and Genentech/Roche. She has received grant/research support from AveXis, PTC Therapeutics, Scholar Rock, and Sarepta. Her presentation has been reviewed for any bias.
  Planning Committee:
Bill Williams, MD has no real or perceived financial relationships to disclose.
Jeremy Williams has no real or perceived financial relationships to disclose.
Jacqueline Cole, RN, MS, CMCN has no real or perceived 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
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the National Association of Managed Care Physicians (NAMCP) and American Association of Managed Care Nurses (AAMCN). The National Association of Managed Care Physicians is accredited by the ACCME to provide continuing medical education for physicians.

NAMCP designates this enduring material for a maximum of 1 AMA PRA Category 1 credit(s)TM. Each
physician should claim credit commensurate with the extent of their participation in the activity.

The American Association of Managed Care Nurses is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center's Commission on Accreditation.

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

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

This activity is supported by an educational grant from

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.

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