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.
If you suspect Pompe disease, referral to nominated ultra-specialist centre is essential so that patients can access full genetic testing and access to disease-specific therapies. Please refer to our ‘Find a specialist centre’ page to find out more.
NP-NN-GB-00011223
October 2024
- 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 mutations and inheritance
5.
Diagnosis of Pompe disease
