What is Stiff-Person Syndrome?
Stiff person syndrome (SPS) is a rare neurological disorder with features of
an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in
the trunk and limbs and a heightened sensitivity to stimuli such as noise,
touch, and emotional distress, which can set off muscle spasms. Abnormal
postures, often hunched over and stiffened, are characteristic of the disorder.
People with SPS can be too disabled to walk or move, or they are afraid to leave
the house because street noises, such as the sound of a horn, can trigger spasms
and falls. SPS affects twice as many women as men. It is frequently associated
with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and
pernicious anemia. Scientists don’t yet understand what causes SPS, but
research indicates that it is the result of an autoimmune response gone awry in
the brain and spinal cord. The disorder is often misdiagnosed as Parkinson’s
disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and
phobia. A definitive diagnosis can be made with a blood test that measures the
level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with
SPS have elevated levels of GAD, an antibody that works against an enzyme
involved in the synthesis of an important neurotransmitter in the brain.
Is there any treatment?
People with SPS respond to high doses of diazepam and several anti-convulsants,
gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the
effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing
stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.
What is the prognosis?
Treatment with IVIg, anti-anxiety drugs, muscle relaxants, anti-convulsants,
and pain relievers will improve the symptoms of SPS, but will not cure the
disorder. Most individuals with SPS have frequent falls and because they lack
the normal defensive reflexes; injuries can be severe. With appropriate
treatment, the symptoms are usually well controlled.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts
research related to SPS in its laboratories at the National Institutes of Health
(NIH), and also supports additional research through grants to major medical
institutions across the country. Current research is focused on understanding
the cause of the disease and the role of the anti-GAD antibodies. A study using
a new drug, Rituximab, is underway in patient trials at the NIH clinical center.
Organizations
National Rehabilitation Information Center (NARIC)
4200 Forbes Boulevard Suite 202
Lanham, MD 20706-4829
naricinfo@heitechservices.com
www.naric.com
Tel: 301.459.5900/301.459.5984 (TTY) 800.346.2742
Fax: 301.5622401
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
www.rarediseases.org
Tel: 203.744.0100 Voice Mail 800.999.NORD (6673)
Fax: 203.798.2291
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health, DHHS
31 Center Dr., Rm. 4C02 MSC 2350
Bethesda, MD 20892-2350
NIAMSinfo@mail.nih.gov
www.niams.nih.gov
Tel: 301.496.8190 877.22.NIAMS (226.4267)
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 2/14/2007...#6076
