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Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
Muscle Nerve 2009; 40(1):149-60MN

Abstract

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.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19533647

Citation

American Association of Neuromuscular & Electrodiagnostic Medicine. "Diagnostic Criteria for Late-onset (childhood and Adult) Pompe Disease." Muscle & Nerve, vol. 40, no. 1, 2009, pp. 149-60.
American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-60.
American Association of Neuromuscular & Electrodiagnostic Medicine. (2009). Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle & Nerve, 40(1), pp. 149-60. doi:10.1002/mus.21393.
American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic Criteria for Late-onset (childhood and Adult) Pompe Disease. Muscle Nerve. 2009;40(1):149-60. PubMed PMID: 19533647.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic criteria for late-onset (childhood and adult) Pompe disease. A1 - ,, PY - 2009/6/18/entrez PY - 2009/6/18/pubmed PY - 2009/8/26/medline SP - 149 EP - 60 JF - Muscle & nerve JO - Muscle Nerve VL - 40 IS - 1 N2 - 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. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/19533647/Diagnostic_criteria_for_late_onset__childhood_and_adult__Pompe_disease_ L2 - https://doi.org/10.1002/mus.21393 DB - PRIME DP - Unbound Medicine ER -