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
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
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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
||Julie A. Parsons, MD
Co-Director, Neuromuscular Clinic
Haberfeld Family Endowed Chair in Pediatric
Professor of Clinical Practice and Neurology
Children’s Hospital Colorado
University of Colorado School of Medicine
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.
MD has no real or perceived financial relationships to
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
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
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