How to diagnose Pompe disease

How to Diagnose Pompe disease

Pompe disease is caused by an absence or deficiency of the lysosomal enzyme acid a-glucosidase (GAA). GAA is essential for the intralysosomal enzymatic degradation of glycogen. GAA deficiency leads to progressive accumulation of glycogen in many tissues but predominantly affects cardiac and skeletal muscle.¹ The diagnosis of Pompe disease is based on reduced GAA activity.²

GAA activity correlates with the age of onset and severity of disease. Infantile patients have less than 1% GAA activity, and late-onset patients have 2%–40% of normal GAA activity.² When Pompe disease is suspected a dried blood spot test (DBS) can be used. GAA deficiency is recommended to be confirmed by using a GAA genetic analysis.²

Though symptoms vary, progressive proximal muscle weakness, with or without respiratory insufficiency or hyperCKemia, should raise suspicion of Pompe disease.¹

If these first-line tests fail to make a diagnosis and the patient has symptoms (such as muscle weakness or cardiomyopathy) associated with different genetic conditions, multiple genes can be analyzed simultaneously using Next Generation Sequencing techniques. (NGS), such as a neuromuscular, myopathy or cardiomyopathy gene panel. Please contact a genetic center for more information.

Will you recognize the symptoms?

Due to the rarity of the disease and overlapping symptoms with more known muscle diseases, Pompe is easily misdiagnosed. Watch these videos for more details!