Special Report
ON THE COVER
Defying Dystonia
A local teen chooses brain surgery
to overcome symptoms of debilitating disorder.
Shelli Liebman Dorfman
Senior Writer
F
or 15-year-old Max Herczeg,
passing drivers' training this past
winter was much less arduous
than a simple walk to the car had been
one long year earlier.
Max, of Farmington Hills, started life on
the usual track: crawling, walking, riding
a bike right on schedule. But when he was
10, symptoms of dystonia — a sometimes
painful and disabling chronic movement
disorder causing muscles to involuntarily
contract and spasm — began to appear. A
year later, in sixth grade, Max began using
crutches, eventually requiring a wheel-
chair to get to his eighth-grade classes.
Because his father, Chuck, was diag-
nosed with what now is termed early
onset generalized dystonia when he was
10, the Herczegs watched carefully for
any evidence of the disorder in Max and
his twin sister, Sophia. When Chuck was
diagnosed, dystonia was not known to be
genetic, but Chuck was always fearful it
might be.
Sandy became pregnant only after the
couple talked out the decision and had
met with a genetic counselor.
After the children were born, but years
before Max was diagnosed, researchers
learned the disorder was caused by a
DYT1 gene mutation and is the most com-
mon form of hereditary dystonia — also
most prevalent among Ashkenazi Jews.
Less than 1 percent of the overall popula-
tion carries the DYT1 mutation. Among
Ashkenazi Jews, frequency is at least three
to five times higher, affecting tens of thou-
sands of North American families. "When
we found out Max had it, it was our worst
nightmare come true Sandy said.
Father And Son
"I noticed my first symptom — my foot
turning inward — one day while I was
playing basketball:' Max said. Over time,
he said, "it moved into my ankle and start-
ed crawling upward and my whole right
leg was turning in. I had muscle spasms
and contractions
Eventually, Sandy said, "Max's symp-
toms included the torquing of his foot,
ankle and leg and intense spasms in his
toes, ankle and quadriceps. Torquing of
."
• ***,
W,' 4.
-Max Herciag's.hrain
- surgity for aystortia
freed him from
yrnptorni that once :.-
put MITI it)..a. wheelchair.
his right arm was present only when he
was writing, and his writing was sloppy.
He had some spasms in a couple of fin-
gers. Abdominal spasms slowly affected
his posture and the forward flexion of his
torso. He was unable to stand up straight,
sit up comfortably and eventually unable
to comfortably walk," Sandy said.
Though Max knew his father has the
same disorder, he said, "I was still sur-
prised to find out I had it, too. My dad's
is different from mine; it's not that bad:'
Chuck has tremors in his right arm and
right leg, and torquing of both arms and
his right leg. "Chuck was never completely
disabled like Max was:' Sandy said.
For Chuck, there was guilt after Max's
diagnosis. "There is no question that I am
responsible," he said. But Max maintains
a forgiving humor. "One day, he looked
at me and jokingly said,`Thanks a lot,
Dad; you gave this to me," Chuck said.
Returning the quip, Chuck told him, At
least you also got my looks:"
Difficult To Diagnose
With Max's first symptoms, his parents
began to search for help. Chuck remem-
bers his own visits to doctor after doctor
and his parents' frustration. "In the begin-
ning, no one knew what it was',' he said. "At
one point, they thought I had Huntington's
chorea [a progressive, degenerative dis-
ease of nerve cells in the brain]. I had a
full neurological workup, then they deter-
mined it was a psychosomatic issue. My
parents weren't satisfied and, when friends
recommended I see a doctor in New York
City, we went and I was diagnosed with
dystonia."
Because there are approximately 13
forms of dystonia — classified mainly
by which parts of the body are affected
— and because dozens of diseases and
conditions include dystonia as a major
symptom, Chuck said, "There was always
the question of what caused it in me. The
doctors said it may have been trauma-
induced or it may have been genetic, but
there was no test at the time to determine
if it was."
No one in Chuck's immediate family
exhibited symptoms and many of Chuck's
relatives died in the Holocaust, so he never
knew if they had the disorder. But now, it
is known that DYT1 dystonia sometimes
skips generations and that not everyone
who carries the gene exhibits symptoms.
"The first doctor Max saw said he might
have cramps in his hand from writing, and
didn't see anything wrong with his gait:'
Chuck said. "Even when we told him I have
dystonia, he still didn't diagnose it:'
So Max's parents took him to Chuck's
doctor, Dr. Peter LeWitt, director of the
Parkinson's Disease and Movement
Disorders Program at the Henry Ford
Health System in Southfield and neurology
professor at Wayne State University School
of Medicine, Detroit. He diagnosed Max.
Dr. LeWitt confirmed the potential dif-
ficulty in diagnosing dystonia, indicating
that "patients may have very different
versions of discomfort or severity of
symptoms. Features can be quite subtle,
such as task-specific, like writer's cramp,
or a foot that turns outward only while
running. Other conditions in children,
such as other types of inherited disorders
affecting muscles or the brain, or birth
injuries such as cerebral palsy can also be
the culprits for signs and symptoms that
seem to be dystonia."
According to the Dystonia Medical
Research Foundation (DMRF) in Chicago,
it is common for patients to visit numer-
Defying Dystonia on page A14
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November 20 • 2008
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