Dystonia: Involuntary movements and prolonged muscle contractions that result in twisting body motions, tremors and abnormal posture. These movements may involve the entire body or only an isolated area.
Dystonic Storm: Continuous, unremitting, severe dystonic movements, either worsening on a background of dystonia or beginning anew. It can last at least hours to days, producing severe physical and psychological distress.
Pain management for NBIA disorders can be very difficult. As the disease progresses, many affected individuals may experience episodes of extreme dystonia lasting for days or weeks. It is especially important during these episodes to evaluate for treatable causes of pain, which may include occult GI bleeding, urinary tract infection and occult bone fractures. The combination of osteopenia in a non-ambulatory person with marked stress on the long bones from dystonia places many individuals with NBIA at high risk for fractures without apparent trauma.
While strong pain medications can have side effects and complications, these problems can be minimized when actively managed by physicians and are often necessary to help combat pain for NBIA individuals.
One of the most consistent forms of relief from dystonia is baclofen. Not every patient on baclofen eventually becomes resistant to it, making it a long-haul treatment for some NBIA patients. This medication is first taken orally, but a baclofen pump may be an option for some individuals. An evaluation can be done to determine the likelihood a patient would respond positively to a pump.
Deep brain stimulation (DBS) is another option used to treat dystonia in NBIA individuals. It involves the placement of electrodes in the brain, which are attached to wires leading to a battery-operated neurostimulator implanted in the chest. The neurostimulator sends pulses to targeted areas in the brain and takes “off line” the part of the brain that is sending too many signals and causing the muscles to move in painful ways.
Injection of botulinum toxin (Botox) into muscles affected by dystonia can also provide relief for several months at a time. Botox helps relieve involuntary contractions causing pain, twisting, abnormal posture or changes in person’s voice or speech, by causing temporary weakness in those muscles. Because each affected muscle must be injected, this is most practical when an individual has dystonia significantly affecting a specific body area, such as the hand or jaw. Resistance to Botox is a real phenomenon. As a result, that treatment could lose its effectiveness over time because the body makes antibodies to combat the toxin.
Many individuals with NBIA have ongoing constipation due to decreased activity, diet and/or medication side-effects. Constipation can cause dystonia. Over-the-counter fiber supplements and stool softeners can often improve the situation.
Other triggers for dystonia can be emotional stress, illness and puberty.
Standard approaches to pain management are generally recommended where there is no identifiable treatment for the underlying cause of pain.