NEWS
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The News Page is constructed as a Blog feed with the most recent posts appearing at the top of the page. The three most recent news posts will also be featured on the homepage of your site.
Case 13: Diagnosis and discussion
Diagnosis: adult onset acid maltase deficiency (Pompe disease). The next step was testing for alpha acid glucosidase (GAA) enzyme activity in the whole blood: Acid alpha-glucosidase was < 2.5 pmol/punch/h (Normal >7.4) The patient also had...
Case 13: EMG, other workup
The nerve conduction study was normal. EMG showed diffuse myopathic changes and spontaneous activity (more prominent in the thoracic paraspinal muscles). Chest X ray showed elevation of R. hemidiaphragm and passive atelectasis of the R. lower lobe (see A,...
Case 13: Differential diagnosis
The pattern is weakness is limb girdle and truncal (including respiratory muscle). There also is camptocormia (bent spine syndrome) as the result of severe weakness of the paraspinal muscles. The best explanation is a myopathy. Differential diagnosis of myopathies...