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...
by krezania | Jun 20, 2019 | Uncategorized
Re-evaluation in 6 months to one year. He was told that there is a question of motor neuron disease (ALS), but progressive course and involvement of other myotomes (besides cervical) are needed to make that diagnosis. Genetic testing for ALS should be considered after...
