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Genetic Counseling and Spinal Muscular Atrophy

Spinal Muscular Atrophy
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This is the fourth module in the “Spinal Muscular Atrophy” program.

Provided by

Support for the activities in this curriculum has been made possible through an educational grant from AveXis.

Course Description

Spinal muscular atrophy (SMA) is an autosomal recessive disorder. Therefore, if a person is confirmed to have SMA in a family, it is often in the best interest of that person and their siblings to seek the assistance of a genetic counselor.

Learning Objective

After participating in the activity, learners should be better able to:

  • Explain why genetic screening and counseling should be recommended to families of those diagnosed with SMA

Release date: 03/31/20
Expiration date: 05/31/21
Estimated time to complete: 0.25 hours

Activity Faculty

Nancy L. Kuntz, MD, FAAN
Attending Physician, Division of Neurology;
Medical Director, Mazza Foundation Neuromuscular Program;
Director, Muscular Dystrophy Association Care Center,
Ann & Robert H Lurie Children’s Hospital of Chicago
Professor of Pediatrics and Neurology,
Northwestern University Feinberg School of Medicine

Target Audience

The target audience for this initiative is physicians, nurse practitioners and physician assistants, nurses, and other clinicians who may encounter patients in their practice with SMA.

Accreditation and Credit Designation

In support of improving patient care, American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

American Academy of CME, Inc., designates this educational activity for 0.25 ANCC contact hours.

Method of Participation

There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the brief post assessment and evaluation. Your certificate can be available immediately.

Disclosure Statement

According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relevant relationships with any commercial interests related to this activity. The existence of these interests or relationships is not viewed as implying bias or decreasing the value of the presentation. All educational materials are reviewed for fair balance, scientific objectivity and levels of evidence. Disclosures are as follows:

Faculty Educator

Dr. Kuntz discloses the following relationships with commercial interests:
Advisory Board: Argenyx, Audentes, AveXis, Biogen, Cytokinetics, Roche, Sarepta
Grant/Research Support: Sarepta, Audentes, Biogen, AveXis

Planning Committee

John JD Juchniewicz, MCIS, CHCP; Sondra Moylan, MS, RN (reviewer), James Radke, PhD: No relevant financial relationships with any commercial interests.

Disclaimer

This activity may contain discussion of off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Hardware/Software Requirements

Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy

For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm

For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact

For any questions, please contact: CEServices@academycme.org

Copyright

© 2020. This CME/CNE-certified activity is held as copyrighted © by American Academy of CME, Inc. and CheckRare. Through this notice, the Academy and CheckRare grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Genetic Counseling and Spinal Muscular Atrophy

Program: Spinal Muscular Atrophy

Slides

Spinal Muscular Atrophy Module 4 slides

Resources

  • Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157-167.
  • Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33:831-846.
  • Lin C-W, K SJ, Yeh W-S. Delay in diagnosis of spinal muscular atrophy: a systemic literature review. Ped Neurol. 2015; 53: 293-300.
  • Bharucha-Goebel D, Kaufman P. Treatment advances in spinal muscular atrophy. Curr neurol Neurosci Rep. 2017;17:91.
  • Parente V, Corti S. Advances in spinal muscular atrophy therapeutics. Ther Adv Neurol Disord. 2018;11:1-13.
  • Shorrock HK, Gillingwater TH, Groen EJN. Overview of current drugs and molecules in development for spinal muscular atrophy therapy. Drugs 2018;78:293-305.
  • Talbot K, Tizzano EF. The clinical landscape for SMA in a new therapeutic era. Gene Therapy. 2017;24:529-533.
  • Lawton S, Hickerton C, Archibald AD, McClaren BJ, Metcalfe SA. A mixed methods exploration of famiies experiences of the diagnosis of childhood spinal muscular atrophy. Europ J Human Genet. 2015;23:575-580.
  • Kemper AR, Lam KK, Comeuau AM et al. Evidence -based review of newborn screening for spinal muscular atropy (SMA): final report (v5.2) 03/13/2018. Available at https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/sma-final-report.pdf.
  • Kraszewski JN, Kay DM, Stevens CF, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med 2018;20:608-613.
  • Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 ;377:1723-1732
  • Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018;378:625-635.
  • Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents’ perspectives. J Child Neurol. 2007;22:1019-1026.

Genetic Counseling and Spinal Muscular Atrophy

Program: Spinal Muscular Atrophy

Provided by

Support for the activities in this curriculum has been made possible through an educational grant from AveXis.

Course Description

Spinal muscular atrophy (SMA) is an autosomal recessive disorder. Therefore, if a person is confirmed to have SMA in a family, it is often in the best interest of that person and their siblings to seek the assistance of a genetic counselor.

Learning Objective

After participating in the activity, learners should be better able to:

  • Explain why genetic screening and counseling should be recommended to families of those diagnosed with SMA

Release date: 03/31/20
Expiration date: 05/31/21
Estimated time to complete: 0.25 hours

Activity Faculty

Nancy L. Kuntz, MD, FAAN
Attending Physician, Division of Neurology;
Medical Director, Mazza Foundation Neuromuscular Program;
Director, Muscular Dystrophy Association Care Center,
Ann & Robert H Lurie Children's Hospital of Chicago
Professor of Pediatrics and Neurology,
Northwestern University Feinberg School of Medicine

Target Audience

The target audience for this initiative is physicians, nurse practitioners and physician assistants, nurses, and other clinicians who may encounter patients in their practice with SMA.

Accreditation and Credit Designation

In support of improving patient care, American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

American Academy of CME, Inc., designates this educational activity for 0.25 ANCC contact hours.

Method of Participation

There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the brief post assessment and evaluation. Your certificate can be available immediately.

Disclosure Statement

According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relevant relationships with any commercial interests related to this activity. The existence of these interests or relationships is not viewed as implying bias or decreasing the value of the presentation. All educational materials are reviewed for fair balance, scientific objectivity and levels of evidence. Disclosures are as follows:

Faculty Educator

Dr. Kuntz discloses the following relationships with commercial interests:
Advisory Board: Argenyx, Audentes, AveXis, Biogen, Cytokinetics, Roche, Sarepta
Grant/Research Support: Sarepta, Audentes, Biogen, AveXis

Planning Committee

John JD Juchniewicz, MCIS, CHCP; Sondra Moylan, MS, RN (reviewer), James Radke, PhD: No relevant financial relationships with any commercial interests.

Disclaimer

This activity may contain discussion of off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Hardware/Software Requirements

Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy

For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm

For more information about CheckRare's privacy policy, please access https://checkrare.com/privacy/

Contact

For any questions, please contact: CEServices@academycme.org

Copyright

© 2020. This CME/CNE-certified activity is held as copyrighted © by American Academy of CME, Inc. and CheckRare. Through this notice, the Academy and CheckRare grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

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