Recommended Assessments

Diagnosis of Pompe disease is typically confirmed by enzyme assay demonstrating low GAA enzyme activity. However, several other clinical and laboratory tests may also be useful during the diagnostic workup. These tests also can help evaluate clinical baseline status (important for any progressive disease) for Pompe disease.

For infants, cardiac tests are important, while muscle, nerve, and motor function testing tends to be the most relevant in children and adults. Certain lab tests are useful in identifying degenerative processes of the muscle tissue.

Many of these tests continue to be valuable after diagnosis to monitor the progression of Pompe disease and to help with disease management.

Find out more about ongoing monitoring

Musculoskeletal & Motor Function Tests[1-4]

A variety of tests may be useful in investigating muscle condition, function, and motor skills, particularly in older patients.

Test May Reveal… In…

Quantitative muscle testing (QMT)

Manual muscle testing (MMT)

Compromised muscle strength and function

Older patients

Muscle biopsy

Abnormal glycogen accumulation

Patients of all ages

Radiography

Scoliosis and other skeletal deformities

Older patients

Motor function test

Failure to meet age-specific functioning

Patients of all ages

Motor Milestones

Infants with Pompe disease typically show delayed motor development, while children may lose already achieved developmental milestones as the disease progresses. Standardized motor milestone benchmarks such as the Pompe PEDI can help evaluate the degree of the disease’s impact and progression.[5]

Cardiac Tests[1-4]

Cardiac tests are most commonly ordered for infants, who usually exhibit severe cardiac complications.

Test May Reveal… Condition?

Chest x-ray / MRI

Cardiomegaly

Electrocardiography (ECG)

Contractile dysfunction (shortened PR interval / tall QRS complexes)

Conduction abnormalities

Arrhythmias

Echocardiography (Echo)

Left ventricular wall thickening

Outflow obstruction

Pulmonary / Respiratory Tests[1-4, 6]

Pulmonary tests to evaluate respiratory function are particularly important, since respiratory failure is the most common cause of death among older Pompe disease patients.[2] Moreover, in some patients respiratory decline or failure precedes skeletal muscle weakness and loss of ambulation.[7]

Test May Reveal… In…

Spirometry

Pulse oximetry and capnography

Compromised pulmonary function

Reduced vital lung capacity

Diaphragmatic weakness

Patients of all ages

Chest x-ray

Respiratory infection

Patients of all ages

Sleep studies.[8]

Sleep-disordered breathing

Nocturnal hypoventilation

Sleep apnea

Patients of all ages

Lab Tests[1-4]

Certain lab tests may reveal elevated levels of biochemical markers related to pathologic processes and muscular degeneration, which may suggest Pompe disease. It is important to note that normal levels do not rule out a diagnosis of Pompe disease:[1], [2], [9]

  • Serum creatine kinase (CK)—this is elevated in most patients with Pompe disease, although usually highest in infants[1], [9], [10]
  • Alanine aminotransferase (ALT)
  • Aspartate aminotransferase (AST)
  • Lactate dehydrogenase (LDH)

Note that patients with Pompe disease typically do not display any abnormalities of glucose metabolism such as hypoglycemia. In addition, patients usually have normal responses to epinephrine and glucagon administration.[2]

Muscle biopsy can be used for the histopathological investigation of muscle tissue and can reveal intracellular glycogen accumulation, which can vary widely depending on tissue site and stage of the disease progression.[2]

References

  1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  2. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
  3. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. 2008;71(23 Suppl 2):S4-11.
  4. Oba-Shinjo S, da Silva R, Andrade F, et al. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol 2009;256(11):1881-90. Epub 2009 Jul 9.
  5. Haley S, Fragala M, Skrinar A. Pompe disease and physical disability. Developmental Medicine & Child Neurology 2003;45:618-623.
  6. Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006;66(4):581-583.
  7. N. Pellegrini, P. Laforet, D. Orlikowski, M. Pellegrini, C. Caillaud, B. Eymard, J. C. Raphael and F. Lofaso. Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J. 2005; 26(6):1024-31.
  8. Mellies U, Ragette R, Schwake C, et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001 Oct 9; 57(7): 1290-5.
  9. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84.
  10. Ausems MG, Lochman P, van Diggelen OP, et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999 Mar 10; 52(4): 851-853.
  11. Mellies U, Lofaso F. Pompe disease: A neuromuscular disease with respiratory muscle involvement. Respir Med. 2009;103(4):477-84.

Find Diagnostic Labs

Get a list of laboratories that can perform enzyme assays and other useful tests to aid in the diagnosis of Pompe disease.

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(Intended for the U.S. only)

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