Audio Clinical Professionals

Metabolic Myopathies: Pompe and Glycogen Storage Disease

Explains the forearm exercise test findings in lipid metabolic myopathy, Pompe disease, and Cori–Forbes disease in practical Neuromuscular Disorders care.

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Duration

00:02:34

File size

1.42 MB

Practitioner-Guided Note

Use the forearm exercise test findings in lipid metabolic myopathy, Pompe disease, and Cori–Forbes disease to frame the working diagnosis and next step; let it shape prognosis counseling and follow-up intensity. Make Pompe disease the checkpoint that determines whether you escalate testing, narrow the differential, or change treatment.

Key Takeaways

Pompe disease can present from infancy through adulthood; Adult-onset Pompe often causes proximal weakness with respiratory involvement and a normal CK; Dried blood spot acid alpha-glucosidase testing is now the preferred screen; Cori-Forbes disease can combine distal and proximal weakness with liver, heart, and respiratory involvement; A reversed forearm exercise pattern points more toward lipid metabolic myopathy than glycogen storage disease