SMA: Early Detection to Enhance Access to Genetic Testing and Disease Modifying Therapies

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Overview / Abstract:

Target Audience

This activity is intended for neurologists; primary care, internal medicine, and pediatric clinicians; psychiatrists; nurse practitioners; physician assistants; physical therapists; physiatrists; social workers; genetics counsellors; pharmacists; and other HCPs who recognize, diagnose and treat patients with neurologic diseases.

Estimated Time to Complete

This activity consists of 5 sessions which should take approximately 5 hours to complete.

Learning Objectives

At the conclusion of this activity, participants will be able to:

LEMS: Enhancing Diagnostic Accuracy and Access to Therapy to Improve Muscle Function

Describe the clinical symptoms of LEMS, the correlation with small cell lung cancer, and the importance of early recognition and testing to confirm a diagnosis
Explain how new channel blocker formulations may fill a therapeutic gap for people with LEMS
Adopt a multidisciplinary approach to LEMS management, engaging HCPs from multiple disciplines, including oncologists and neuro-muscular specialists
Pathophysiology and Targeted Treatments: Enhancing Outcomes in MG

Describe the correlation between an enhanced understanding of the pathophysiology of myasthenia gravis and emerging confirmatory diagnostic serologic tests
Describe the efficacy, safety, and place in therapy of current and emerging treatments for myasthenia gravis
Explain the importance of multidisciplinary care with neuromuscular specialists, hematologists, thoracic surgeons, pulmonologists, oncologists, physical and occupational therapists, primary and specialist care physicians
ALS: The Era of Disease Modifying Therapies

Identify patient characteristics and symptoms that suggest a diagnosis of ALS so appropriate testing can be performed to rule out mimicking conditions and confirm a diagnosis
Explain the therapeutic rationale of current and emerging treatments for the management of ALS
Describe the importance of coordinated specialized multidisciplinary ALS care and its impact on quality of life and extend survival
SMA: Early Detection to Enhance Access to Genetic Testing and Disease Modifying Therapies

Describe the link between genetic mutations, the onset of symptoms, and the importance of early recognition and diagnosis of SMA to prevent irreversible loss of nerve function and ensure early access to effective and potentially curative treatment
Differentiate current and emerging treatment options to produce functional SMN protein levels
Explain the importance of a multidisciplinary team approach, including gastroenterology, nutritionist, pulmonology, orthopedics, and physical-therapy members, to maximize quality of life in patients with SMA
Rett Syndrome: Early Recognition and Emerging agents to Reduce Disease Burden

Recognize the subtle signs and symptoms of Rett syndrome to confirm diagnosis early in the disease course
Appraise the therapeutic potential of agents currently being investigated for the treatment of patients with Rett syndrome
Describe the need for coordinated comprehensive care provided at a specialty clinic, including neurology, developmental pediatrics, gastroenterology, orthopedics, speech, and occupational- and physical-therapy specialists


Apr 01, 2022



Credits / Hours

1.0 AMA PRA Category 1 Credit(s)™



Presenters / Authors / Faculty


Ericka P. Greene, MD
Associate Professor of Neurology
Vice Chair of Education
Stanley H. Appel Department of Neurology
Weill Cornell Medical College-Houston
Methodist Hospital

Amanda C. Peltier, MD, MS
Associate Professor of Neurology and Medicine
Vanderbilt University Medical Center

Terry D. Heiman-Patterson, MD
Professor of Neurology
Director, Neurodegenerative Disease Center
Director, MDA ALS Center of Hope
Temple University Lewis Katz School of Medicine

Julie A. Parsons, MD
Haberfeld Family Endowed Chair in Pediatric
Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine
Children's Hospital Colorado

David N. Lieberman, MD, PhD
Attending Child Neurologist
Assistant, Department of Neurology
Instructor of Neurology, Harvard Medical School
Boston Children’s Hospital
Department of Neurology

Sponsors / Supporters / Grant Providers

Acadia Pharmaceuticals Inc., Alexion Pharmaceuticals, Inc., Biogen, Catalyst Pharmaceuticals, and Mitsubishi Tanabe Pharma America, Inc.

Keywords / Search Terms

Relias LLC FreeCME, Relias LLC., Therapies Free CE CME

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