Pompe disease (GSD type II): investigations

Dried blood spot (DBS) test

• Consider screening people with raised CK and limb girdle weakness
• It is positive in 2.5% of people with these features

Tissue GAA activity

Mutational analysis

Cardiorespiratory assessments

Muscle MRI

Other radiological features

Muscle biopsy

Blood tests

Other tests

Prenatal diagnosis: techniques

References

1. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology 2008; 71(Suppl 2):S4-S11.
2. Kishani PS,  Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. ACGM Practice guideline 2006; 8:5.
3. Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016; 87:295-298. 
4. Gutiérrez-Rivas E, Bautista J, Vílchez JJ, et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015; 25:548-553.
5. Musumeci O, la Marca G, Spada M, et al; Italian GSD II group. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. JNNP 2016; 87:5-11.
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Related checklists

• Pompe disease (GSD type II): clinical features
• Pompe disease (GSD type II): enzyme replacement therapy (ERT)
• Pompe disease (GSD type II): other management