Multidisciplinary Approach

Pompe disease affects multiple body systems; optimal management therefore requires a multidisciplinary team approach led by a physician who is experienced in managing this disorder.

Ideally this team should include a metabolic disease specialist or biochemical geneticist to co-ordinate care as well as individualised specialists and therapists to manage the patient’s specific disease manifestations.1

MDT team 

Late-onset Pompe disease is associated with significant disability and reduction in health-related quality of life, with most patients eventually becoming wheelchair bound. Provision of multidisciplinary care needs also to encompass requirements for nursing care and caregiver support.2, 3

Related Links


  1. 1.Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE. Pompe disease diagnosis and management guideline. Genet Med. 2006;8.
  2. 2.Kanters TA, van der Ploeg AT, Brouwer WB, Hakkaart L. The impact of informal care for patients with Pompe disease: an application of the CarerQol instrument. Mol Genet Metab. 2013;110:281-6.
  1. 3.Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L. Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis. 2011;34:1045-52.