Haberfeld Neuromuscular Visiting Professorship 2023

Aurora, CO US
January 13, 2023

Hypotonic infants and children present a challenge in terms of differential diagnosis. It is important to determine if weakness is present, then work to determine a possible genetic diagnosis for neuromuscular disease.

Our child neurology residents are not exposed often enough to pediatric patients with neuromuscular disorders. The opportunity to develop the skills to make accurate diagnoses is limited as many of these are rare disorders. Despite the rarity of the disorders, a methodical approach to history and physical exam can lead to diagnosis. Many of the patients with neuromuscular disorders will benefit from treatments specific to their diagnosis.

Target Audience

This education program is intended for child neurology physicians, fellows, residents, advanced practice providers, nurses, rehabilitation professionals and physical therapists.

Learning Objectives

At the conclusion of this conference, participants should be able to:

  • Determine hypotonia vs. weakness in patients during examination. 
  • Develop a rational plan for genetic diagnosis in a neuromuscular patient and devise strategy for multidisciplinary care for a patient with congenital myopathy. 
  • Explain and implement the Care Consideration Guidelines for Congenital Myopathies.
Course summary
Available credit: 
  • 6.75 AMA PRA Category 1 Credit™
  • 6.75 Attendance
Course opens: 
Course expires: 
Event starts: 
01/13/2023 - 7:30am MST
Event ends: 
01/13/2023 - 4:00pm MST
Friday, January 13, 2023
7:30amRegistration & Breakfast
8:00Welcome & Introductions
8:05New Adventures in Neurogenetics in the Era of Precision Medicine
Presented by: James Dowling, MD
9:00Case 1: COL6A1
Presented by: Melissa Wright, MD
10:00Case 2: COL6A3
Presented by: Julie Parsons, MD
10:45Case 3: PREPL-related Congenital Myasthenic Syndrome
Presented by: Melissa Wright, MD
11:15TBD Lecture
Presented by: Melissa Wright, MD
11:45Lunch Break
12:30pmX-Linked Myotubular Myopathy: A Paradigm for Therapy Development for Rare Neuromuscular Disorders
Presented by: James Dowling, MD
1:30Case 4: Selenon Congenital Myopathy
Presented by: Melissa Wright, MD
2:15Case 5: RYR1
Presented by: Melissa Wright, MD
3:15Case 6: COL6A3
Presented by: Julie Parsons, MD

*Schedule subject to change

Children's Hospital Colorado
13123 E. 16th St
Aurora, CO 80045
United States

Guest Speaker

James Dowling, MD, PhD
Professor, University of Toronto
Staff Clinician and Senior Scientist, Division of Neurology
Hospital for Sick Children

Planning Committee

Julie Parsons, MD
Professor of Clinical Pediatrics and Neurology
Children's Hospital Colorado

Hattie Foster
Children's Hospital Colorado

Laura Konopka
Program Operations Manager, NeuroScience Institute
Children's Hospital Colorado

Priscilla Harlan
Senior Administrative Professional, NeuroScience Institute
Children's Hospital Colorado


Julie Parsons MD, planner for this educational activity, is a researcher for Biogen, Biohaven, Novartis, PTC Therapeutics and Scholar Rock.

James Dowling, MD, speaker for this educational activity, is a consultant for Kate Therapeutics and Dynacure and is a researcher for Astellas Gene Therapy. 

Planners, faculty, and others in control of content (either individually or as a group) have no relevant financial relationships with ineligible companies.

All of the relevant financial relationships listed have been mitigated.


Children’s Hospital Colorado is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Children’s Hospital Colorado designates this Live activity for a maximum of 6.75 AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.


A general certificate of attendance will be available after the completion of the online evaluation. Claim only credit commensurate of your conference attendance.


*Credit hours subject to change as schedule is finalized.

Available Credit

  • 6.75 AMA PRA Category 1 Credit™
  • 6.75 Attendance


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