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Glycogenosis type II, or acid maltase deficiency, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase. Diagnosis of glycogenosis type II is suspected in patients with a progressive proximal muscle weakness in combination with myopathic discharges on electromyogram and a raised serum creatine kinase. Diagnosis is confirmed by mutation analysis and muscle biopsy.1
We investigated the association between glycogenosis type II and ptosis in a 37-year-old woman diagnosed with glycogenosis type II who initially presented to our neurologic center with unilateral ptosis and decreased levator function. Proximal, truncal, and facial muscle weakness are common symptoms in glycogenosis type II. Weakness of the levator palpebrae muscle, however, is not a known feature of glycogenosis type II. Ptosis in patients with late-onset glycogenosis type II has incidentally been reported.2,3
Methods.
Twelve patients with biochemically proven late-onset glycogenosis type II were enrolled from the Dutch population: eight patients from the Radboud …
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- Ptosis as a feature of late-onset glycogenosis type II
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