About Pompe disease
Diagnosis of Pompe disease
Diagnosis of Pompe disease is often difficult because of the variable age of onset of clinical signs, many of which are also associated with other neuromuscular disorders.1,2 In addition, many physicians are not familiar with Pompe disease.3 Some late-onset patients are not diagnosed for over 10 years after the onset of clinical signs.4
Diagnostic tests
Patients will undergo a range of physical examinations and laboratory tests during the diagnostic process. Diagnosis is then confirmed by establishing GAA enzyme deficiency and genetic testing to identify the two disease-associated GAA variants.5,6
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- Confirmation of reduced GAA enzyme activity
- Performed using dried blood spots, leukocytes, fibroblasts derived from skin biopsies and muscle tissue
- Used to confirm Pompe disease diagnosis and identify pathogenic variants
- The only way to discriminate unequivocally between carriers and affected individuals within families
Preimplantation testing and prenatal diagnosis are also available when a pregnancy is known to be at risk for Pompe disease.3
Certain requesting specialties can arrange genetic testing to confirm a suspected Pompe disease diagnosis. Individuals diagnosed with Pompe disease should then be referred to a nominated ultra-specialist centre to access disease-specific therapies. Please refer to our ‘Genetic testing for Pompe disease’ page to find out more.
Com-NN-UKI-26-00019
May 2026
- Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288.
- Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics. 2018;15(4):928-942.
- NORD. Pompe Disease. 2024. Available at: https://rarediseases.org/rare-diseases/pompe-disease/. Accessed: May 2026.
- Reuser AJJ, van der Ploeg AT, Chien YH, et al. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Hum Mutat. 2019;40(11):2146-2164.
- American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-160.
- Niño MY, Wijgerde M, de Faria DOS, et al. Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience. Eur J Hum Genet. 2021;29(3):434-446.
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Clinical manifestations of Pompe disease
6.
Genetic testing for Pompe disease
