At present, there is no cure for stiff-person syndrome, a disease marked by high levels of antibodies to glutamic acid decarboxylase (GAD65), an enzyme involved in the production of a movement-regulating neurotransmitter. Patients are usually treated with Valium (diazepam), which is only mildly successful at controlling symptoms. While the cause of stiff-person syndrome is unknown, doctors had suspected that it may be an autoimmune disorder.
About 1 in every million people has the disorder, though it is often misdiagnosed and may be more common than recognized. Up to 65% of patients cannot perform daily tasks because of total-body stiffness or frequent falls. Some patients rely on walkers or wheelchairs while others are completely bedridden. Exposure to noise, touch or emotional distress can set off muscle spasms, and some patients are afraid to leave their house because of the spasms.
High doses of antibodies may help relieve the muscle rigidity and spasms associated with stiff-person syndrome. Patients who had infusions of immune globulin - a collection of antibodies derived from donor blood for 3 months were able to walk more easily, fell down less often, and reported improvements in their ability to perform work-related and household tasks.
The Findings indicate that intravenous immune globulin is safe, well tolerated, and effective for stiff-person syndrome and significantly improves patients' ability to perform the activities of daily living and thus, their quality of life. While the treatment had no major side effects, it is expensive, costing more than $10,000 a month.