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Testing and Diagnosis

Patients with Pompe disease are characterised by having either no or substantially reduced acid α-glucosidase enzyme activity.

However, diagnostic delays are common.Contributing factors include the rarity of the disorder, its wide clinical spectrum, signs and symptoms that overlap with those of other neuromuscular disorders, variable diagnostic approaches, lack of awareness of the clinical manifestations and difficulties in completing the diagnostic inventory.2

Enzyme replacement therapy results in significant improvement in outcome measures in patients with Pompe disease.3-7 Thus highlighting the need for better awareness of the disease and earlier application of diagnostic testing to reduce diagnostic delay and initiate treatment before more profound pathophysiologic damage can occurr.1

Testing & screening

Testing & screening

When Pompe disease is suspected, confirmation of clinical diagnosis requires demonstration of the absence or significant reduction in acid α-glucosidase (GAA) enzyme activity. 

Diagnostic Delay

Diagnostic Delay

Diagnostic delays are common in Pompe disease and exists across the disease spectrum.This section explores the factors associated with diagnostic delays. 

Diagnosis algorithms

Diagnosis algorithms

Diagnostic algorithms and clinical evaluations are vital to establish the extent and severity of disease in a patient diagnosed with Pompe disease.

References

  1. 1.Kishnani PS, Amartino HM, Lindberg C, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013;161A:2431-43.
  2. 2.Toscano A, Montagnese F, Musumeci O. Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta Myol. 2013;32:78-81.
  3. 3.van der Meijden JC, Gungor D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis. 2015;38:495-503.
  4. 4.Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45:319-33.
  1. 5.Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99-109.
  2. 6.Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66:329-35.
  3. 7.Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013;260:951-9.