Abstract | INTRODUCTION: METHODS: We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry. RESULTS: The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases. CONCLUSIONS: Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT.
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Authors | Andoni Echaniz-Laguna, Robert-Yves Carlier, Kenza Laloui, Pierre Carlier, Emmanuelle Salort-Campana, Jean Pouget, Pascal Laforet |
Journal | Muscle & nerve
(Muscle Nerve)
Vol. 51
Issue 6
Pg. 884-9
(Jun 2015)
ISSN: 1097-4598 [Electronic] United States |
PMID | 25786784
(Publication Type: Journal Article)
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Copyright | © 2015 Wiley Periodicals, Inc. |
Chemical References |
- Creatine Kinase
- alpha-Glucosidases
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Topics |
- Adult
- Aged
- Cohort Studies
- Creatine Kinase
(blood)
- Electrocardiography
- Female
- France
(epidemiology)
- Glycogen Storage Disease Type II
(complications, diagnosis, therapy)
- Humans
- Lysosomal Storage Diseases
(etiology)
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Muscular Diseases
(etiology)
- Respiratory Function Tests
- Young Adult
- alpha-Glucosidases
(genetics, metabolism)
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