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Diagnostic criteria for late-onset (childhood and adult) Pompe disease.

Publication ,  Journal Article
American Association of Neuromuscular & Electrodiagnostic Medicine,
Published in: Muscle Nerve
July 2009

The diagnosis of late-onset (childhood and adult) Pompe disease can often be challenging, as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders. The objective was to develop a consensus-based algorithm for the diagnosis of late-onset Pompe disease. A systematic literature search was conducted, and an expert panel composed of neuromuscular specialists and individuals with expertise in Pompe disease reviewed the literature and convened for consensus development. An algorithm for the diagnosis of late-onset Pompe disease was created. Patients presenting with either a limb-girdle syndrome or dyspnea secondary to diaphragm weakness should undergo further testing, including evaluations of muscle strength, motor function, and pulmonary function. A blood-based acid alpha-glucosidase (GAA) enzyme activity assay is the recommended tool to screen for GAA enzyme deficiency. The diagnosis should be confirmed by a second test: either a second GAA enzyme activity assay in another tissue or GAA gene sequencing.

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Published In

Muscle Nerve

DOI

ISSN

0148-639X

Publication Date

July 2009

Volume

40

Issue

1

Start / End Page

149 / 160

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • PubMed
  • Physical Examination
  • Neurology & Neurosurgery
  • Neural Conduction
  • Muscular Dystrophies, Limb-Girdle
  • Muscle Weakness
  • Humans
  • Glycogen Storage Disease Type II
  • Electromyography
 

Citation

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ICMJE
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American Association of Neuromuscular & Electrodiagnostic Medicine, . (2009). Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve, 40(1), 149–160. https://doi.org/10.1002/mus.21393
American Association of Neuromuscular & Electrodiagnostic Medicine, C. G. “Diagnostic criteria for late-onset (childhood and adult) Pompe disease.Muscle Nerve 40, no. 1 (July 2009): 149–60. https://doi.org/10.1002/mus.21393.
American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009 Jul;40(1):149–60.
American Association of Neuromuscular & Electrodiagnostic Medicine, C. G. “Diagnostic criteria for late-onset (childhood and adult) Pompe disease.Muscle Nerve, vol. 40, no. 1, July 2009, pp. 149–60. Pubmed, doi:10.1002/mus.21393.
American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009 Jul;40(1):149–160.
Journal cover image

Published In

Muscle Nerve

DOI

ISSN

0148-639X

Publication Date

July 2009

Volume

40

Issue

1

Start / End Page

149 / 160

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • PubMed
  • Physical Examination
  • Neurology & Neurosurgery
  • Neural Conduction
  • Muscular Dystrophies, Limb-Girdle
  • Muscle Weakness
  • Humans
  • Glycogen Storage Disease Type II
  • Electromyography