by krezania | Jun 21, 2019 | Uncategorized
48 y/o woman presented with right sided foot drop which was noted one year before with no pain or sensory symptoms. Six months later she developed left sided foot-drop, and noted twitching in the thighs and arms. Family history was significant for ALS in the father...
by krezania | Jun 21, 2019 | Uncategorized
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 undergone a muscle...
by krezania | Jun 21, 2019 | Uncategorized
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, right...
by krezania | Jun 21, 2019 | Uncategorized
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...
by krezania | Jun 21, 2019 | Uncategorized
60 old man presented with 5 year history of progressive proximal lower limb weakness as manifested by difficulty raising from a chair and climbing stairs. Since about 2 years before, he developed abnormal gait, arm weakness, exertional shortness of breath, and...
