The UCSF Movement Disorders and Neuromodulation Center provides comprehensive, state-of-the-art, multidisciplinary care to patients with movement disorders. “Our mission is to use advanced technology to restore patients with movement disorders to a full life,” said UCSF neurosurgeon Philip Starr, MD, PhD. The following case study describes how the UCSF team successfully treated a young man’s medication-resistant dystonia with deep brain stimulation (DBS).
Progressive symptoms undiagnosed for seven years
A 10-year-old boy developed left-foot inversion, which made it difficult for him to walk. He subsequently developed a tremor in his right arm, and then his neck and trunk began to twist. He was seen by several practitioners but did not get a correct diagnosis. At age 17, he was referred to the UCSF Movement Disorders and Neuromodulation Center.
Diagnosis: single-gene mutation
The UCSF team recognized the patient’s syndrome immediately. Genetic testing confirmed an uncommon single-gene mutation associated with generalized dystonia. His clinic neurologist, an expert in both pediatric and adult dystonia, tried medications known to treat the disorder, but they did not adequately relieve the young man’s symptoms. The UCSF team then proposed DBS surgery, to which the patient and his parents agreed.
DBS tailored to patient’s brain signals
In December 2021, the patient was admitted to UCSF Benioff Children’s Hospital where the movement disorders team placed bilateral DBS electrodes in his basal ganglia, using an advanced MRI-guided technique developed at UCSF. This technique makes it possible to confirm extremely accurate placement of the electrodes prior to completing surgery. After electrode placement within the bore of a 3T MRI, the patient was taken to the operating room for placement of the pulse generator – the battery and control unit – in his chest.
The implantable pulse generator selected for this patient was Medtronic’s Percept PC neurostimulator. In addition to delivering stimulation therapy, this device can sense and store brain signals and then stream them wirelessly to a computer. This can help to tailor stimulation therapy according to an individual’s brain signals. When the UCSF neurophysiology team first read the patient’s brain signals on the device, they discovered a specific pattern of brain activity associated with involuntary movements – something never before seen in this condition. The team set the device to track this specific brain rhythm.
Symptoms improved after two months
Several weeks later, the patient had his first programming session at the UCSF Movement Disorders and Neuromodulation Center. His device was set at a low level of stimulation, and the clinic neurologist gave him and his parents detailed instructions on how to turn up the levels every few days. His abnormal body movements started to subside, and after two months, he was able to walk more easily and his neck was no longer twisted. Full benefit from DBS for this condition typically takes six to 12 months. The UCSF team expects the patient to continue to improve and live a normal life.
“Treatment with DBS therapy in children with some specific genetic types of dystonia can be remarkable and is one of the most satisfying experiences to witness in my career,” Starr said.
Neurology and neurosurgery research and treatment take place within the UCSF Weill Institute for Neurosciences.
UCSF Medical Center is No. 1 in the nation for neurology and neurosurgery, according to U.S. News & World Report’s 2021-2022 Best Hospitals survey.
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UCSF Movement Disorders and Neuromodulation Center
Phone: (415) 353-2311 | Fax: (415) 353-9060
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