Managing dystonia in NBIA patients:
A treating doctor’s perspective
- By Dr. Tamara Zagustin
One of the most common and disabling symptoms NBIA patients face is dystonia, a movement disorder that causes problems with walking, posture, speech, swallowing, pain and breathing. Sometimes, spasticity and exaggerated reflexes occur. Because the course of NBIA is unpredictable, managing dystonia is daunting.
So far, many of the interventions that seem to improve NBIA symptoms, including dystonia, become diminished over time. Consequently, clinicians continue to work closely with families and patients to adjust treatments, with the goal of maintaining as high a quality of life as possible for patients.
The search continues for treatments that would:
- Be successful in controlling dystonia and spasticity
- Target the specific brain regions where these symptoms originate
- Require the smallest effective dose
- Provide flexibility in managing the drug or treatment, while maintaining safety
- Allow individualization of the treatment
- Be reversible
- Minimize invasiveness, side effects and complications
- Be universally available and affordable
- Be fit for use early in life so the disease could be treated aggressively from the start
At this time, baclofen and trihexyphenidyl (Artane) remain the most effective drugs for disabling dystonia and spasticity. Unfortunately, the oral forms of these medications are not very effective over time in controlling movement disorders. Moreover, side effects may crop up early on — before the drugs’ full potential can be seen.
When oral baclofen is no longer effective, an intrathecal baclofen pump should be considered, probably earlier rather than later. That involves injecting the baclofen into the fluid-filled area surrounding the spinal cord. This area is called the intrathecal space. A programmable pump and catheter are surgically placed inside the body and deliver the baclofen continuously based on the settings deemed appropriate by your doctor. The pump is not without risk as infection, baclofen withdrawal or overdoses are possible complications.
On the plus side, the intrathecal baclofen pump is more effective than oral baclofen and at a much lower dosage. The treatment is reversible by removing the pump and there is flexibility in how the dosage is delivered by using a continuous or flexible mode or a combination of both modes together. The pump is less invasive than some other treatments, such as deep brain stimulation, which probably is the next best option for managing dystonia.
A baclofen pump can be used as early as age 3. It is not approved by the Food and Drug Administration for managing dystonia, but there are multiple studies and reports on its use for dystonia.
To optimize this therapy, I suggest the following:
- The catheter tip should be placed as close as possible to the brain (high cervical region) or within the brain (intraventricular baclofen pump), although few neurosurgeons will do the IVB surgery at this time.
- Work with an experienced team of professionals, including neurosurgeons, rehabilitation or movement disorder specialists who have experience in baclofen pump therapy.
- Make regular visits to the doctor after the pump is first implanted, at least once every week or two, to optimize baclofen dosage within a short period of time (less than three months). Dosage should be increased in a progressive but conservative way, with increases between 20 percent to 30 percent on average. Usually the dose for dystonia management is much higher than the dose needed for spasticity. The upper limit is usually determined by the best response with minimal side effects.
- Implement a flex mode where boluses are programmed every three hours at relatively high dosages (usually greater than 200 mcg/bolus) with high basal rates (continuous mode).
- Maintain good communication with the doctor in case of complications. Withdrawal is probably more frequent than overdose given the possibility of an acute pump malfunction with a baclofen dosage that is usually greater than 2,000 mcg/day.
- At doctor visits, continue to re-evaluate the effectiveness of the treatment and the need for adjustments to optimize the therapy. NBIA’s unpredictability will always be a challenge to the most experienced clinician, but before saying the baclofen pump failed in providing benefits you should explore treatment options fully.
- Be goal-specific and goal-oriented. The goals can evolve throughout the different stages of the disease. Be realistic and recognize the limits of what can be achieved over time with the complexity of this disease. Try and be objective.
- Other therapies such as oral medications, botulism toxin injections and deep brain stimulation can and should be used when appropriate in conjunction with baclofen therapy to maximize outcomes and results.
More studies are needed on baclofen therapy and deep brain stimulation to improve our understanding of how and when to use these interventions for NBIA individuals, and knowing who stands to benefit the most from them. Feel free to contact me if there are any questions, comments or other at firstname.lastname@example.org.
Tamara Zagustin, M.D. is board-certified in Physical Medicine and Rehabilitation and Pediatric Rehabilitation Medicine. She earned her medical degree from the Universidad Central de Venezuela (1991) and completed her Physical Medicine and Rehabilitation residency both at the Universidad Central de Venezuela (1996) and at the University of Arkansas for Medical Sciences (2007). She completed a fellowship in Pediatric Rehabilitation Medicine at the Children’s Hospital in Denver, University of Colorado (December 2008) and later joined Rady Children’s Hospital San Diego in January 2009 - September 2010. Now she is practicing at Children’s Healthcare of Atlanta. She has great interest in the health of children and adults with chronic disabling neurological diseases such as cerebral palsy, neurodegenerative diseases, spinal cord injury, movement disorders, traumatic brain injury, and chronic pain syndromes.
Dr. Zagustin has participated in NBIA clinical appointments at the 2011 and 2013 family conferences, giving her valuable experience with NBIA individuals. She was the treating physician for president Patricia Wood's daughter Kimberly when she received her intrathecal baclofen pump in 2010.