Massachusetts Medical Society: Going on Metabolism Rounds: Patients with Muscle Symptoms

Going on Metabolism Rounds: Patients with Muscle Symptoms

Genetics for the Nongeneticist

Wednesday, March 6, 2024 – 12:00 to 1:00 p.m. ET

  • Aren’t metabolic disorders diagnosed in childhood?
  • What characteristics should raise concern about an inborn error being the cause of a patient's muscle symptoms?
  • What tests can help confirm the diagnosis of a metabolic disease causing a patient's muscle symptoms?
  • What do I do for symptomatic patients with a metabolic disorder as the underlying cause of their muscle symptoms?

The diagnosis of genetic metabolic diseases is frequently missed, especially in the adult population. This is a tragic situation since diagnostic screening tests are readily available and effective therapy can ameliorate or prevent complications. During this webinar, learners will encounter three patients presenting with muscle symptoms due to inborn errors: Pompe disease, a long chain fatty acid oxidation defect, and glycogen storage disease.


Webinar Learning Objectives

Upon completion of this activity, learners should be able to:

  • Describe some important characteristics that should raise concern about an inborn error being the cause of a patient's muscle symptoms
  • Select appropriate tests that can help confirm the diagnosis of a metabolic disease causing a patient's muscle symptoms
  • Formulate a plan of action for symptomatic patients whom you believe have a metabolic disorder as the underlying cause of their muscle symptoms

Faculty

Mark Korson
Mark Korson, MD
Director of Physician Support and Director of Education, VMP Genetics, LLC

5-Part Webinar Series Flyer


Webinar Registration Fees

This is a free webinar.

This program is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $635,000 with 0% financed with non-governmental sources. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement by, HRSA, HHS, or the U.S. Government.


Accreditation Statement

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 Massachusetts Medical Society and New England Regional Genetics Network. The Massachusetts Medical Society is accredited by the ACCME to provide continuing medical education for physicians.


AMA Credit Designation Statement

The Massachusetts Medical Society designates this live activity for a maximum of 1.00 AMA PRA Category 1 CreditTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


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