Insider’s View

Nicholas Maragakis, M.D.

Nicholas Maragakis, M.D., is a Hopkins neurologist/researcher who specializes in neuromuscular diseases.

Is ALS difficult to diagnose?
That depends on when patients come to you. Because people usually visit a primary physician first, I often see patients after the disease has developed, when diagnosis is more obvious. The earlier the disease—no surprise—the more difficult the diagnosis. A person may have weakness in one arm and say, “My doctor thinks it’s a problem with my disc.” You can’t say it’s ALS from that alone.

So we rely on three hallmarks of diagnosis. We look for lower motor-neuron problems: loss of muscle and weakness beginning on one side of the body in a specific spot, say a hand or leg. We look for fasciculations, the roiling beneath the skin that comes when irritated motor neurons fire spontaneously. And we note upper motor-neuron difficulties—a stiffness in the walk or a greater urge to laugh or cry.

Of course there are tests...
Yes. The most important we do are the electromyogram (EMG), which measures a muscle’s electrical activity, and nerve conduction studies. They pick up areas of subtle nerve loss we wouldn’t see otherwise. MRI lets us eliminate brain or spinal irregularities, such as cervical stenosis, the spinal-cord narrowing that’s not uncommon in older patients.

We do blood tests to look for thyroid disease. An excess of thyroid hormone can produce muscle weakness and even fasciculations. Vitamin B12 deficiency can also produce symptoms. We look for syphilis and, surprisingly, for Lyme disease. Lyme triggers neuromuscular effects that can resemble early ALS.

Other tests are tailored to particular symptoms. Then we schedule a follow-up visit because worsening of symptoms is a prime signal.

Why don’t you just wait until things are obvious in the first place?
Starting treatment earlier may help patients do better in the long run. That’s apparently the case with patients on Rilutek. Mouse models, whose disease runs much more quickly, show that too. If I’m only 95 percent sure of the diagnosis, I don’t want to wait six months before putting patients on Rilutek just so I can say I was right. Most of us at large medical centers are aggressive about treating, even though our arsenal is small: Rilutek, vitamin E—which seems to slow ALS progression from a mild to a moderate state—and creatine. Some patients use CoQ-10.

Anything else you do?
Because ALS patients are in a state of catabolism or muscle breakdown, weight loss is sure. We recommend early placement of a PEG (percutaneous endoscopic gastrostomy) tube to take in extra nutrition at the first sign of weight loss. The same goes for BiPap (bilevel positive airway pressure). We believe patients who, early on, use this way to clear carbon dioxide and rest diaphragm muscles at night do better.

Next > From the Clinic
Lora Clawson, M.S.N., C.R.N.P., manages Johns Hopkins’ ALS clinic. She also oversees its clinical trials. In this column she answers typical patients’ questions.