Article
Rigid spine syndrome revealing late-onset Pompe disease.
Neuromuscular disorders : NMD - 1 Feb 2010
Laforêt Pascal, Doppler Valérie, Caillaud Catherine, Laloui Kenza, Claeys Kristl G, Richard Pascale, Ferreiro Ana, Eymard Bruno
Abstract excerpt
The authors describe a 50-year-old man who was evaluated for a rigid spine syndrome with onset at age 15, and subsequent walking difficulties. Cardiac and pulmonary functions were normal. Deltoid biopsy revealed the presence of small vacuoles and increased glycogen with Periodic Acid Schiff stain...
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