Testing
Since the early 2000s genetic testing that measures the size of the D4Z4 deletions on 4q35 has become the preferred mechanism for confirming the presence of FSHD. As of 2007, this test is considered highly accurate but is still performed by a limited set of labs in the US, such as Athena diagnostics under test code 405. However, because the test is expensive, patients and doctors may still rely on one or more of the following tests, all of which are far less accurate and specific than the genetic test:
- Creatine kinase (CK) level: This test measures the Creatine kinase enzyme in the blood. Elevated levels of CK are related to muscle atrophy.
- electromyogram (EMG): This test measures the electrical activity in the muscle
- nerve conduction velocity (NCV): This test measures the how fast signals travel from one part of a nerve to another. The nerve signals are measured with surface electrodes (similar to those used for an electrocardiogram), and the test is only slightly uncomfortable.
- muscle biopsy: Through outpatient surgery a small piece of muscle is removed (usually from the arm or leg) and evaluated with a variety of biochemical tests. Researchers are attempting to match results of muscle biopsies with DNA tests to better understand how variations in the genome present themselves in tissue anomalies.
Read more about this topic: Facioscapulohumeral Muscular Dystrophy
Famous quotes containing the word testing:
“Today so much rebellion is aimless and demoralizing precisely because children have no values to challenge. Teenage rebellion is a testing process in which young people try out various values in order to make them their own. But during those years of trial, error, embarrassment, a child needs family standards to fall back on, reliable habits of thought and feeling that provide security and protection.”
—Neil Kurshan (20th century)
“Is this testing whether I’m a replicant or a lesbian, Mr. Deckard?”
—David Webb Peoples, U.S. screenwriter, and Ridley Scott. Rachel, Blade Runner, being tested to determine if she is human or machine (1982)
“Traditional scientific method has always been at the very best 20-20 hindsight. It’s good for seeing where you’ve been. It’s good for testing the truth of what you think you know, but it can’t tell you where you ought to go.”
—Robert M. Pirsig (b. 1928)