Screening for late-onset Pompe disease in western Denmark

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Late-onset Pompe disease (LOPD) is a rare metabolic myopathy caused by reduced alpha-glucosidase activity.
• Previous Danish studies identified LOPD in a small subset of neuromuscular patients.
• Systematic screening for LOPD in unspecified myopathy cases in western Denmark was lacking.

Purpose of the Study:

• To screen patients diagnosed with unspecified myopathy for late-onset Pompe disease.
• To determine if LOPD is underdiagnosed in this patient population in western Denmark.

Main Methods:

• Medical records of 654 patients with myopathy codes (ICD 10: G71.0-71.9, G72.0-72.9) from 2002-2012 were reviewed at seven neurological departments.
• Eighty-seven patients meeting screening criteria were invited for testing.
• Dried blood spot (DBS) tests were used to measure alpha-glucosidase enzyme activity.

Main Results:

• A total of 654 patients with myopathy were identified.
• Eighty-seven patients (13.3%) met screening criteria; 47 (54%) underwent DBS testing.
• All tested patients exhibited alpha-glucosidase enzyme activity within normal reference ranges.

Conclusions:

• No patients screened had reduced alpha-glucosidase activity, indicating no cases of late-onset Pompe disease were detected.
• The findings suggest that LOPD is not significantly underdiagnosed in patients with unspecified myopathy in western Denmark, despite the small cohort size.