Pompe disease (GSD type II): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pompe disease (GSD type II): investigations. Consider screening people with raised CK and limb girdle weakness. Fully referenced neurology checklist.
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
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Mutational analysis
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Cardiorespiratory assessments
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Muscle MRI
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Other radiological features
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Muscle biopsy
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Blood tests
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Other tests
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Prenatal diagnosis: techniques
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References
- Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology 2008; 71(Suppl 2):S4-S11.
- Kishani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. ACGM Practice guideline 2006; 8:5.
- 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.
- 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.
- 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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