Vim & Vigor - Summer 2020 - UVA - 8

Segawa disease is estimated
to affect one in a million
people worldwide, though the
number is probably higher,
since the diagnosis is often
missed. -Amal Abu Libdeh, MD
a pediatric neurologist who specializes in
pediatric movement disorders. Dr. Abu Libdeh
quickly ruled out cerebral palsy, which typically
results from injury to the developing brain
either before, during or after delivery or early
in the child's life, though some cases can be
genetic in origin.
"Cerebral palsy is more of a descriptive term
rather than a specific diagnosis. It describes
cases of impaired motor development, where
symptoms appear early in life, tend to be stable
and usually improve with therapy," Dr. Abu
Libdeh says. "In Alana's case, there were no
unusual events during pregnancy, delivery or
early childhood. Alana was walking normally
as a toddler, and then that changed. She also
wasn't improving despite all the interventions.
This was not consistent with cerebral palsy."
Given that, and other clues from a medical
history and physical exam, Dr. Abu Libdeh
suspected that Alana had dopa-responsive
dystonia, or Segawa disease, a rare genetic
movement disorder that causes the muscles
to tighten and forces the limbs (usually the
legs) into abnormal postures. The disorder
is caused by a mutation of the GCH1 gene,
which affects the production of dopamine, a
brain chemical necessary for proper functioning of the brain centers that control movement. Dr. Abu Libdeh ordered a genetic test
to confirm the diagnosis.
Dopa-responsive dystonia is estimated
to affect one in a million people worldwide,
though the number is probably higher
because the diagnosis often is missed, Dr.
Abu Libdeh says. There are different types
of dopa-responsive dystonia disorders, and
Segawa disease is the most common and
least complex.
"Dystonia is often missed because many
people don't recognize it," Dr. Abu Libdeh

says. "Muscle tightness is the presenting
symptom of dystonia, and it looks similar
to the spasticity seen in cerebral palsy and
other conditions. Dystonia in Segawa disease
usually presents around a few years of age,
after the child has been walking normally for
a while. Once these symptoms start, they progressively get worse until treatment begins."
Knowing it would take weeks to get the
genetic testing results, Dr. Abu Libdeh
prescribed Sinemet, a drug commonly prescribed for Parkinson's disease. It combines
levodopa, an artificial form of dopamine,
and carbidopa, an agent that helps alleviate
side effects. People with Segawa disease typically have a dramatic positive response to
this medication.

HUGS FOR HER DOCTOR

Three days after she started taking Sinemet,
Alana was walking again. And if further proof
was needed, the genetic test confirmed Dr. Abu
Libdeh's initial suspicion of Segawa disease.
Now in second grade, Alana, 7, has
resumed karate-which she had to quit as
her symptoms progressed-and was making plans to play soccer and baseball. She
is rebuilding the confidence she lost during
her ordeal.
"Alana knows she can do anything that
any other child can do, and she's like a whole
different child," Libby says. "We love Dr. Abu
Libdeh, and Alana hugs her every time she
sees her. Dr. Abu Libdeh is the reason why
she's walking again, and we are so grateful.
Dr. Abu Libdeh took the time and figured out
what was happening to Alana. She's the only
doctor that hit it on the head."
There is currently no cure for Segawa disease, so Alana will have to stay on the daily
medication for the rest of her life. *

"Alana knows she
can do anything
that any other
child can do," says
Libby Sanderson,
Alana's mom.

Movement
Disorders:
A Word on Tics
and Tourette

Tics are repetitive and involuntary movements and vocalizations. Children with tics
may demonstrate behaviors
such as eye blinking, face grimacing, shoulder shrugging,
sniffing, throat clearing or
grunting. Tics may be triggered
by stress, anxiety, excitement
or fatigue or may occur for no
apparent reason.
Tourette syndrome is one
type of tic disorder. Children
who have had both vocal
and motor tics for more than
a year may be diagnosed
with Tourette. Many affected
children also have other
conditions, such as attention
deficit hyperactivity disorder
or obsessive-compulsive disorder. People with Tourette
often are depicted in the media
as having outbursts of yelling
obscenities, though that is not
a common symptom.

Many
Specialists
Collaborate in
Children's Care

At UVA Children's, families
dealing with pediatric movement disorders have access to
experts in specialties such as
neurology, psychology, psychiatry, neurosurgery and developmental pediatrics. These
experts collaborate to provide
the most effective therapies
available, including medications, cognitive and behavioral
therapy, and deep brain stimulation. "Many people are able
to lead a normal life and go on
with having a successful career
despite these conditions,"
says Amal Abu Libdeh, MD, a
pediatric neurologist at UVA
Children's. To hear why Dr. Abu
Libdeh chose her specialty, go
to uvahealth.com/libdeh.

SUMMER 2020 VIM & VIGOR

FdVVSU2088_06-08_PedsMovementDisorder.indd 8

3/24/20 1:40 PM

http://www.uvahealth.com/libdeh

Vim & Vigor - Summer 2020 - UVA

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