About Pompe disease
Clinical manifestations of Pompe disease
As previously discussed, late-onset Pompe disease is characterised by progressive muscle weakness and respiratory insufficiency.1 Numerous other body systems are involved, including those in the figure below.
Click on the dots to learn more.
Tap on the dots to learn more.
For more detailed information on pathophysiology relating to specific organ systems, please view our pages on Neurology and Respiratory manifestations above.
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
- Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics. 2018;15(4):928-942.
- Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med. 2019;7(13):284.
- Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-333.
3.
GAA gene variants and inheritance
5.
Diagnosis of Pompe disease
