Since the announcement that singer Celine Dion was diagnosed with a rare neurological disorder called stiff person syndrome (SPS), online discussions about the disorder have surged.
According to the Genetic and Rare Diseases Information Center, less than 5,000 people in the United States are living with this disorder. Among those diagnosed with SPS, women are twice as likely as men to be diagnosed.
We asked James Shou, M.D., Ph.D., a neurologist at Rochester Regional Health, to explain the disease, how it is diagnosed, and currently available treatments.
What is stiff person syndrome?
Stiff Person Syndrome (SPS) is a rare, progressive disease that affects the body’s nervous system, particularly the spinal cord and brain. Adults are most often diagnosed with this syndrome.
Symptoms of SPS appear as follows:
- extreme muscle stiffness or stiffness
- Painful spasms of the torso and limbs
- Improved sound sensitivity
- jerky movements
- emotional distress and anxiety
- increased falls
- atypical spine posture
The exact cause is still unknown, but the National Institute of Neurological Disorders and Stroke suggests it may be related to abnormal autoimmune responses in the brain and spinal cord, killing the nerve cells that control muscle movement. It may be causing the body to attack. Stiff-person syndrome is often associated with other autoimmune diseases such as type 1 diabetes, thyroiditis, vitiligo, and pernicious anemia.
Diagnosis of stiff person syndrome
A patient’s primary care provider often refers the patient to a specialist based on symptoms.
Because the disorder is so rare, according to the National Institute of Neurology, stiff-person syndrome is usually associated with other, more common disorders such as anxiety and phobias, fibromyalgia, multiple sclerosis, Parkinson’s disease, and psychosomatic disorders. Diagnosed by first ruling out an underlying disorder or disease. disability and stroke.
A neurologist may perform a comprehensive physical and neurological examination, electromyography (EMG) of muscles to help rule out similar conditions, and blood tests to measure levels of special nerves. A combination of techniques can be used to definitively diagnose SPS. Proteins called glutamic acid decarboxylase (GAD) antibodies. GAD antibodies are often significantly elevated in diabetics. In SPS patients, GAD antibody levels are at least 10-fold higher than the range seen in diabetes. However, antibodies may be absent in up to one-third of her patients.
“In rare diseases, finding an accurate diagnosis can be difficult because one or two symptoms can indicate multiple underlying illnesses,” said Dr. Shou. “Our neurologists work with patients and primary care providers to incorporate as much information as possible to identify and treat symptoms.”
Treatment and research
There is no cure for stiff person syndrome, but there are treatments and treatments to relieve some of the symptoms and manage the pain.
Medications such as oral diazepam can be prescribed to relieve anxiety and relax muscles, while other medications such as baclofen and gabapentin relieve muscle spasms.Funded by the National Institute of Neurological Disorders and Stroke. A recent study, which provided a .
A small number of clinical trials related to stiff-person syndrome are currently underway in the United States and France.
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