Duchenne muscular dystrophy carriers carry on, despite uncertainty
When Rena Szymanski turned 40, she expected to slow down a bit. She never had been athletic, and it sometimes seemed to her that climbing stairs was harder for her than it was for other people, but she thought her strength was “normal” in general.
Soon after her birthday, though, she noticed increasing weakness. “I didn’t know what was wrong with me,” says Szymanski, who until recently was...
The diagnostic process in neuromuscular disease involves following many clues and rounding up the usual -- and not so usual -- suspects
*Note: In the print edition of Quest, this article was titled "Rounding Up the Usual -- and Not So Usual -- Suspects."
The scene is familiar to everyone who watches crime dramas. The safe has been opened, and the hotel guests' jewelry and other valuables are missing. What happened, and when, and who's responsible?
As scientists continue to link inheritable diseases to specific genes, genetic tests are becoming a standard tool in the diagnosis of neuromuscular diseases. Many are available on a fee-for-service basis from commercial or university labs, and others are available (sometimes free of charge) from research laboratories studying certain diseases.
Diagnosis of neuromuscular disease hinges on a doctor's ability to identify a specific defect of neuromuscular function. Sometimes, a doctor can infer this functional defect — and the disease associated with it — by giving a physical exam, doing a blood test or looking at the anatomy of nerves and muscles.
But other times, the doctor may have to directly evaluate the functions of nerves and...
Almost everyone with a neuromuscular disorder has had, or will have, a creatine kinase test. But what exactly is creatine kinase (CK), and why are its levels measured in neuromuscular diseases?
CK, also known as phosphocreatine kinase, or CPK, is a type of protein called an enzyme. It catalyzes, or "encourages," a biochemical reaction to occur. The normal function of CK in our cells is to add a...