Solve a diagnostic puzzle
“I had just come back from Israel,” she tells me. “Oh, it was a very exciting trip! But,” she said, “I do remember being tired a lot. The hardest part was getting into and out of the bus.”
That’s when things started, she said. “I had a rash on my legs. I went to see my doctor.”
“What did they do for you?” I ask her.
“It just went away.”
Grace is 80 years old, has a lively and vibrant voice and manages her Newton house by herself.
Grace had other issues after she returned from her trip. “I’d be sitting in a chair,” she says. “But when it came time for me to get up, I had a hard time. Chairs! I couldn’t understand why they were giving me such a hard time!”
“What were you feeling when you tried to get out of the chair?” I ask her. “Did it feel like your legs were heavy, like lead?”
“No,” she replies. “I just felt like my legs were going on me. Like they were going to buckle. Sometimes, I’d start to stand, and halfway up I couldn’t do it anymore. I would sit down again. I noticed that certain chairs made it easier. For instance, when the chairs had arms.”
“So it was your legs, mostly. Your leg muscles that had suddenly gone weak?’’ She agrees.
“But was there anything else? Did you notice your arms were weak too?”
“No. But there were a few other things,” she said. “I had a few falls. The worst fall, my feet gave out. My ankle would just go on me. I started to feel unstable walking.”
“I went to a CVS,” she recalled. “I was in an aisle, pushing a shopping cart, and I just fell to the ground. I sat there on the ground, crying, thinking my life was over.”
What would make it difficult to get up out of a chair?
Standing from a seated position — especially without using your arms at all — means relying on the muscles of the leg, particularly the quadriceps — the large, meaty muscles of the thighs. The quadriceps extend the knees, let us walk, run, squat, jump, and rise out of a chair.
Dr. Steven Greenberg, a neurologist at Brigham and Women’s Hospital, has made a career specializing in diseases that affect the muscles. He knows that lots of different conditions can cause a person to have weakness in specific muscle groups, such as the quadriceps. The causes may be as varied as inflammation in the muscle, Cushing’s syndrome, an underactive thyroid, and even certain infectious agents, including a parasite that comes from eating undercooked pork.
Certain medications, including statins, can cause the muscle to break down, leading to weakness and muscle pain. Differentiating among these causes usually means looking at the affected muscle under a microscope with special stains. “Dr. Greenberg told me they wanted to biopsy my muscles,” Grace says. “They ended up taking some tissue from my thigh.”
Soon after obtaining the tissue, Greenberg had a diagnosis. He was able to rule out statin-induced muscle damage and other kinds of muscle diseases.
Grace’s disease is one that Greenberg has been studying for years: It’s called inclusion body myositis. The cause of this mysterious disease is unknown but appears to involve some combination of muscle being injured by the immune system and other causes of muscle degeneration. “Next to the injured muscle tissue, we often see lots of immune cells, and they are probably causing a lot of the damage. But sometimes, some of the muscle fibers appear to die without any immune cells around,” he says.
Inclusion body myositis is a rare disease, although it is one of the more common causes of degenerative muscle disease in those above 50. “Up to 70 people per every million may have the disease. It’s mostly seen in Caucasians. It’s virtually unheard of in Africa and certain parts of Asia, but that might be changing,” according to Greenberg.
Usually, Greenberg says, people with inclusion body myositis have a slow progression of symptoms, and like Grace, it may take months or even more than a year before they see their physician. “People have difficulty gripping objects, opening jars, turning a key to get into the house. They might have trouble getting out of chairs and bicycling. Later on in the disease, people will complain of their knees buckling.”
Doctors didn’t know what to make of Grace’s rash, although some thought about a disease that mimics inclusion body myositis, called dermatomyositis. But the biopsy was not consistent with dermatomyositis.
Unfortunately, even if inclusion body myositis is accurately diagnosed, there are no effective therapies. Many of the afflicted require a wheelchair within a decade or may suffer serious injury or even death from falls or respiratory problems. Recently, there have been some glimmers of promising drugs on the horizon. Novartis has developed a compound called BYM338 (bimagrumab) that stimulates muscle growth.
Chairs are still a problem for her. “People are always around to help.” she says, “but I’m not embarrassed anymore.”Do you have your own medical mystery? Dr. Sushrut Jangi of Beth Israel Deaconess Medical Center can be reached at firstname.lastname@example.org.