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
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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
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Audience: This activity is intended for
healthcare professionals practicing in managed care environments.
This presentation 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. 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
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
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
||Julie Parsons, MD
Co-Director, Neuromuscular Clinic
Haberfeld Family Endowed Chair in Pediatric
Professor of Clinical Practice, Pediatrics-Neurology
Children’s Hospital Colorado
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.
MD has no relevant financial relationships to disclose.
Jeremy Williams has no relevant financial relationships
Will Williams has no relevant financial relationships to
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
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
This activity has been approved by the American Board of Managed
Care Nursing for 1.0 contact hour toward CMCN recertification
This presentation is supported by
an educational grant from
NAMCP and/or this website does not
provide medical advice, diagnosis or treatment. NAMCP does not
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health related concern, consult with your physician or healthcare
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