Treatment

Pompe disease can be treated using enzyme replacement therapy (ERT).
 

Specialist Treatment Centres

There are experts throughout the UK who can provide the best care and treatment for patients with Pompe. If your patient has one or more of the following symptoms:

  • Pattern of muscle weakness, generally proximal rather than distal1,2 
  • EMG anomalies: markedly increased muscle membrane irritability; myotonic discharges; brief motor unit action potentials (MUAPs)1,3 
  • >10% drop in forced vital capacity (FVC) from seated to supine testing2 
  • Elevated serum CK level1,4–6
    1. American Association of Neuromuscular & Electrodiagnostic Medicine. Muscle Nerve 2009; 40(1): 149-160
    2. van der Beek NA, et al. Orphanet J Rare Dis. 2012; 7: 88
    3. Toscano A, et al. Acta Myol. 2013; 32(2): 78–81[BAU13] Bautista Lorite J. Expert Rev Neur Ed Especial. 2013; 13: 17–19
    4. Bautista Lorite J. Expert Rev Neur Ed Especial. 2013;13:17–19
    5. Preisler N, et al. Mol Genet Metab. 2013; 110(3): 287–9
    6. Spada M, et al. Mol Genet Metab. 2013; 109(2): 171–173

MAT-GB-2105180 (v1.0)
Date of preparation: April 2022