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Expert Clinical Perspectives: Diagnosis and management of metabolic myopathies
Expert Clinical Perspectives: Diagnosis and management of metabolic myopathies
Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead to exercise intolerance, rhabdomyolysis, and weakness in children and adults, distinct from the severe forms that involve multipleorgan systems. These nonspecific, dynamic symptoms along with conditions that mimic
metabolic myopathies can make diagnosis challenging. Clinicians can shorten the time to diagnosis by recognizing the typical clinical phenotypes and performing next generation sequencing. With improved access and affordability of molecular testing, clinicians need to be well-versed in resolving variants of uncertain significance relevant to metabolic myopathies. Once identified, patients can improve quality of life, safely engage in exercise, and reduce episodes of rhabdomyolysis by modifying diet and lifestyle habits.

The AANEM is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

There are no disclosures or conflicts of interest.

The AANEM designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credits TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Credit expires 8/3/2026.
Salman F. Bhai MD; John Vissing MD
Availability: On-Demand
Expires on Aug 03, 2026
Cost: Member: $0.00
Non-Member: $15.00
Credit Offered:
1 CME Credit
1 CEU Credit
2621 Superior Drive NW Rochester, MN 55901
Phone: 507.288.0100
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