Rare Ailment Occurs More in Ashkenazis
After David Rudolph sprained his ankle during a basketball game, his father noticed that the second-grader couldn’t seem to keep his left heel flat on the ground. The problem persisted, sidelining David from his position as catcher on his Little League team, and preventing him from progressing beyond his blue belt in karate.
An orthopedist suspected a contracted Achilles tendon, and sent David for physical therapy. When that failed, David underwent a series of neurological tests, none of which indicated a problem. One physician even suggested a psychological phenomenon called “conversion hysteria,” implying that David had created the problem to get attention.
“We knew that wasn’t the case, because it was keeping him from the activities he loved,” said Mark Rudolph, David’s father.
The Rudolphs continued searching. Finally, a pediatric neurologist diagnosed the problem as dystonia, a condition she had seen only four times in her career. A second specialist confirmed the finding. It had taken almost six months for David to receive a proper diagnosis.
A neurological movement disorder characterized by involuntary muscle contractions and spasms, dystonia forces the body into abnormal positions and twisting movements. It can affect a specific body part, such as the neck, hands or torso, or many parts simultaneously, and can vary in severity from mild to extreme.
Although few people have heard of the disease, dystonia affects approximately 300,000 people in North America — more than better-known conditions such as muscular dystrophy, Huntington’s disease and cystic fibrosis.
There are 16 types of dystonia, and it affects all races and ethnic groups, as well as both genders. However, Ashkenazi Jews have a higher than normal incidence of one type, called early onset (generalized) dystonia. This type of dystonia is associated with a mutation in a gene called DYT1.
Ashkenazi Jews carry the mutation at a rate about 10 times higher than that of the general population. DYT1, identified in 1997, somehow disrupts communication between the brain and muscles. Only one parent needs to have the mutation to pass it on to the next generation, yet most people are unaware that they are carriers.
“Two-thirds of individuals with the mutation are asymtomatic [have no symptoms] or have minor problems,” said Dr. John Menkes, the pediatric neurologist who confirmed David’s diagnosis and a co-founder of the Dystonia Medical Research Foundation. “Many people who have dystonia don’t realize it.”
Early onset dystonia tends to show up between the ages of 5 and 16, usually with symptoms in the foot or hand. The involuntary movements may progress quickly to involve all limbs and the torso, although the rate of progression usually slows noticeably after adolescence.
The disease is not fatal, but there is no cure. Physicians use a variety of therapies to reduce muscle spasms, pain and impaired function and posture.
For David, dytstonia means taking 12 pills daily and wearing a brace to stabilize his right foot and ankle. It also involves physical therapy twice weekly, chiropractor visits and Botox injections for the muscle spasms.
Dystonia does not affect mental functioning. A precocious, bright fourth-grader at Wilshire Boulevard Temple’s Brawerman Elementary School, David speaks in rapid-fire sentences, using such words as “curious” and “concerned” to describe classmates’ reactions to his condition. This summer, he will attend his third local session of the Johns Hopkins University’s Center for Talented Youth.
For David’s parents, dystonia is “the uninvited guest that hasn’t left,” said his mother, Diane. Each day, she and her husband wonder whether the cocktail of medications they administer to their son is really making a difference, and whether it may, in fact, be causing harm.
They try to find a balance between letting David pursue the activities he loves and shielding him from injury. Since being diagnosed two years ago, he has fractured his wrist, elbow and knee because of falls due to balance problems. Should he break a leg, David’s muscle contractions could prevent proper casting of the bone.
The Rudolphs have watched the condition progress from David’s left foot to his right foot and leg. Having read the literature and seen videos of patients who are bent at the waist or in wheelchairs, they wonder how bad it will get and which of David’s body parts will be affected. Most of all, they grapple with how much to tell their son about his condition.
“We’ve tried to shield him from what the worst could be,” said his father. “But he’s 10 years old. At some point, we won’t be able to protect him.”
Karen Ross understands the emotions experienced by the Rudolphs.
“Dystonia is damaging to individuals and to families,” said Ross, a clinical psychologist. “You never go back to the kind of family you once were.”
Ross became interested in psychology after her son, Michael, was diagnosed with dystonia in 1975. The family had spent three years trying to find out what was wrong. At that time, there were no organizations dedicated to the disease, no support system for families and no awareness of dystonia within the Jewish community.
Ross now serves on the board of the Dystonia Medical Research Foundation — as do the Rudolphs — to try to change that.
“We want to make this the last generation of Jews who have this disease,” Ross said. The Dystonia Medical Research Foundation has provided more than $19 million in grants to scientists since its inception in 1976.
Research is encouraging, although it remains to be seen whether the psychologist’s goal will be met. On the positive side, pediatric neurologist Menkes noted that in dystonia, unlike many other diseases, nothing is missing or defective. Since the gene implicated in dystonia “seems to prevent normal movement of certain cellular components, the idea would be to prevent the action of this bad gene,” he explained.
One disadvantage, however, is that dystonia “doesn’t get any attention in the research community,” said Dr. Marie-Francoise Chesselet, UCLA Medical School’s neurobiology department chair. Chesselet, who has served on the scientific advisory committee of the Dystonia Medical Research Foundation, said that researchers are more interested in working on conditions with greater visibility or prevalence.
Until the DYT1 gene mutation was identified, “dystonia was like a black box,” she said. “People had no idea even how to even approach it…. Now there are some extremely good researchers who, while not primarily interested in dystonia, are interested in those particular biological mechanisms, and are now applying their knowledge and experimental skills to dystonia.”
In fact, researchers have discovered how to silence the mutated DYT1 gene in cultured cells. They are currently trying to do so with worms, flies and mice.
The 1997 discovery of the DYT1 gene also allowed for the development of a genetic test for patients and family members who are possible carriers, as well as prenatal testing to determine if a fetus has the mutated gene.
Two years ago, a man with dystonia and his wife used a technology called premiplantation genetic diagnosis (PGD) to insure that their child would not be born with the disease. PGD involves fertilizing eggs outside the body and screening for genetic disease before returning them to the womb for gestation. The child, born in September 2003, was the first to be born using this technology to check for dystonia.
The condition has also received recent public recognition because of concert pianist Leon Fleisher. Focal dystonia in his right hand forced Fleisher to limit his playing to one-handed pieces. After he received Botox injections, the tension in his hands relaxed sufficiently for him to make his first two-handed recording in 40 years.
Fleischer has donated a portion of the profits from the CD, appropriately titled, “Two Hands,” to the Dystonia Medical Research Foundation and has worked with the foundation’s Musicians With Dystonia group to address the needs of musicians with the condition.
All of these developments are giving hope where there once was none. “Ten years ago, I never thought I’d see effective treatment or a cure. I can now say that’s possible,” said Ross’ son, Michael, now 45 years old and a rabbinical student at the Reconstructionist Rabbinical College in Pennsylvania.
The Rosses and Rudolphs want members of the Jewish community to know about dystonia so that should they encounter it in their own families, they won’t have to wait months or years for a proper diagnosis. They believe that lack of awareness is the only thing preventing the community from taking action.
In terms of awareness and education, “the community has successfully dealt with other Jewish disorders, such as Tay Sachs and Familial Dysautonomia,” said Karen Ross. “The Jewish community cares when it knows what to care about.”
For more information, contact the Dystonia Medical Research Foundation, www.dystonia-foundation.org, (800) 377-3978; Bachmann-Strauss Dystonia & Parkinson Foundation, www.dystonia-parkinsons.org, (212) 241-5614; WE MOVE www.wemove.org, (212) 875-8312; National Institute of Neurological Disorders and Stroke, www.ninds.nih.gov.