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...
by krezania | Jun 21, 2019 | Uncategorized
Note the marked prolongation of distal latency of the right median nerve motor response (normal < 4.1 ms) and also prolongation of right ulnar nerve motor distal latency at the wrist (normal <3.8 ms). There is also slowing of the conduction velocity of the...
by krezania | Jun 21, 2019 | Uncategorized
The positive FH for malignant hyperthermia lead us to test for skeletal muscle ryanodine receptor (RYR1) gene mutation. A previously described, disease associated, heterozygous mutation in Exon 47 of the RYR1 gene was discovered. Diagnosis: myopathy secondary to...
