- 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:
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:
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.