Pompe disease should be considered as part of the differential diagnosis for all children and adults presenting with limb-girdle muscle weakness and respiratory insufficiency1

Late Onset Pompe Disease (LOPD)

The most common clinical manifestations are progressive proximal muscle weakness and respiratory insufficiency2

Respiratory muscle weakness

In a study of 92 children and adults with untreated LOPD, 74% of all patients had pulmonary dysfunction3

Proximal muscle weakness

In a natural history study of 94 adults with LOPD, shoulder, abdominal, paraspinal, and hip muscles were weakened in >80% of patients4

Progressive proximal muscle weakness and respiratory insufficiency2 ultimately lead to a loss of ambulation and the need for ventilation support. Children and adults with Pompe disease show much greater heterogeneity than infants with the condition.2,5,4

Explore the manifestations of Pompe disease:

Cardiac involvement is rare in children and in adults with Late-Onset Pompe disease.

Progressive proximal muscle weakness, the hallmark symptom of Pompe disease, can interfere with daily living.6,7

Patients may report having issues breathing while they are sleeping, problems when they are walking or even struggling to get up from a seated position.

Infantile Onset Pompe Disease (IOPD) – infants typically present with pronounced hypotonia, severe cardiomegaly8 and cardiomyopathy6

  • Other signs include frequent respiratory infections, failure to reach motor milestones and difficulty feeding
  • Patients with Pompe disease will exhibit progressive muscular weakness
  • Pompe disease most commonly affects the proximal limbs and respiratory muscles, no matter the age of the patient6

Respiratory

Respiratory manifestations caused by diaphragm weakness can be the first indication of Pompe disease9-11

If left untreated, Pompe disease can lead to respiratory failure – the most common cause of death in Pompe disease2,10-12

Patients may notice the first signs of respiratory muscle dysfunction when lying down, including:10,12,13


Orthopnoea


Hypoventilation, especially when lying down


Sleep disordered breathing (SDB)


Morning headache


Dyspnoea at rest and after exercise


Chronic respiratory insufficiency

Look out for other symptoms which may point towards Pompe disease:

  • Reduced postural drop in forced vital capacity (FVC) of 25% from the sitting to the supine position4,14,15
  • Susceptibility to chest infections11
  • Post-operative failure to wean on to solid food due to muscle weakness16
    1. American Association of Neuromuscular & Electrodiagnostic Medicine. Muscle Nerve 2009; 40(1):149–160
    2. Winkel LP, et al. J Neurol. 2005;252 (8):875–884
    3. van der Beek NA, et al. Mol Genet Metab. 2011;104(1-2):129–136
    4. van der Beek NA, et al. Orphanet J Rare Dis. 2012 ;7:88
    5. American Association of Neuromuscular & Electrodiagnostic Medicine. Muscle Nerve 2009; 40(1):149–160
    6. Hirschhorn R, et al. The Metabolic and Molecular Basis of Inherited Disease 2001;8(3):3389–3420
    7. Kishnani PS, et al. Genet Med. 2006; 8(5):267–288
    8. Kishnani PS, et al. J Pediatr. 2006; 148:671–676
    9. Muller-Felber W, et al. Neuromuscul Disord. 2007;17(9-10):698–706
    10. Fuller D, et al. Respir Physiol Neurobiol. 2013;189(2):241–249
    11. Mellies U, et al. Respir Med. 2009;103(4):477–484
    12. Sixel B de S, et al. Jornal Brasileiro de Pneumologia 2017;43(1):54–59
    13. O’Callaghan C, et al. Respirology Case Reports 2016;4(5):e00178
    14. Manganelli F, et al. Acta Myol. 2013;32(2):82–84
    15. Gaeta M, et al. Mol Genet Metab. 2013;110(3):290–296
    16. Ruiz A, et al. PM&R. 2014;6(8 Suppl. 2):S 100

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