WHAT IS STIFF PERSON SYNDROME?
Stiff-person syndrome is a rare progressive neurological disorder characterized by constant painful contractions and spasms of voluntary muscles, particularly the muscles of the back and upper legs. Researchers theorize that stiff-person syndrome may be an autoimmune disorder. Other autoimmune disorders such as diabetes, pernicious anemia (a chronic, progressive blood disorder), and thyroiditis (inflammation of the thyroid gland) may occur more frequently in patients with stiff-person syndrome.

WHAT ARE THE SYMPTOMS?
Symptoms may occur gradually, spreading from the back and legs to involve the arms and neck. Symptoms may worsen when the affected individual is anxious or exposed to sudden motion or noise. Affected muscles may become twisted and contracted, resulting in bone fractures in the most severe cases. Individuals with stiff-person syndrome may have difficulty making sudden movements and may have a stiff-legged, unsteady gait. Sleep usually suppresses frequency of contractions. Stiffness may increase and patients may develop a hunched posture (kyphosis) or a swayback (lordosis).

HOW IS IT DIAGNOSED?
Several different tests may be used in combination to make a diagnosis of stiff-person syndrome. Some of these tests include:

Lab Test
Hemoglobin A1C: This is obtained because of association with diabetes mellitus.
Complete blood count: An association with pernicious anemia has been reported.
Comprehensive metabolic profile
Thyroid-stimulating hormone: Thyroiditis is sometimes associated.

Special tests
Anti-GAD antibodies
Anti-pancreatic islet cell antibodies
Anti-amphiphysin antibodies

Imaging Studies
MRI or CT scanning is used occasionally.

Other Tests
Electromyography (EMG)
EEG

Procedures
Possibly obtain lumbar puncture to look for oligoclonal bands, which can be observed in up to 50% of patients, and obtain lumbar puncture if the patient's presentation is odd or complex.

HOW IS IT TREATED?
The treatments for stiff-person syndrome help alleviate the symptoms or suppress the damaging autoimmune response. Diazepam relaxes the muscles and may provide relief from painful muscle spasms. Intravenous immunoglobulin (IVIG), immunosuppressive drugs, plasma exchange and steroids all affect the immune system and may help control progression of the disease.

WHAT IS THE PROGNOSIS?
There is no cure for stiff-person syndrome. The long-term prognosis for individuals with stiff-person syndrome is uncertain. Management of the disorder with drug therapy may provide significant improvements and relief of symptoms.

MORE INFORMATION
Please visit the National Organization for Rare Disorders