What is Stiff Person Syndrome? Celine Dion’s diagnosis explained

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Celine Dion’s announcement Thursday that she has been diagnosed with Stiff Person Syndrome leaves millions of fans with many questions.

The condition is so rare that the diagnosis of Stiff Person Syndrome (SPS) is literally one in a million, and symptoms mimic the characteristics of other ailments such as Parkinson’s Disease or Multiple Sclerosis.

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The cause of SPS is unknown, but it is believed to be an autoimmune disease that affects the brain and the spinal cord. It is a progressive disease.

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There is no cure, but the disease can be managed.

Patients experience muscle spasm and stiffening, usually starting in the trunk of the body and then moving into the limbs and other muscles over time. Eventually, the muscle issues affect the joints, lower back and posture.

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Also known as Moersch-Woltman syndrome, the muscle spasms associated with SPS can be very painful, sometimes appearing out of the blue and sometimes triggered by loud noise or emotional distress, according to the Cleveland Clinic.

The muscle spasms can be severe enough to affect mobility and cause a patient to fall down.

As the disease progresses, walking can become more difficult and falls can become more frequent.

Symptoms usually begin to develop later in life, between the age of 30 and 60 — and twice as many women as men develop SPS.

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Patients can experience symptoms that range from mild to severe, and so treatment is highly individualized.

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Yale Medicine notes that people with SPS are more like to also have symptoms of anxiety or depression, not just because of what they’re coping with, but because they have lower levels of the neurotransmitter gamma-aminobutyric acid (GABA), which regulates anxiety.

The immune system appears to attack a protein called glutamic acid decarboxylase (GAD), which helps make GABA. Most SPS patients (60-80%) have anti-GAD antibodies in their blood and cerebrospinal fluid.

GABA regulates motor neurons by decreasing their activity. When GABA levels fall, the motor neurons tend to fire continuously, affecting muscle behaviour.

Patients with SPS often have other autoimmune diseases, such as diabetes (type 1), vitiligo, and pernicious anemia. SPS also turns up in people who have certain cancers and lymphomas.

The life expectancy of a patient ranges from 6 to 28 years after symptom onset.

In many patients, symptoms can be stabilized through medication and physical therapy.

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