In early December 2022, famous singer Celine Dion announced that she has rigorous syndrome (a rare neurological disorder). surprised the world And that led to a surge in support for the French-Canadian star.
Until Dion’s revelation, most people probably had never heard of this condition. stiffness syndrome Twice as many women as men have the disorder, with only 1 in 1 million people, mostly between the ages of 20 and 50.
first reported in 1956, the classic and most common form of stiffness syndrome, is characterized by painful, variable stiffness of muscles primarily in the trunk, including the back, abdomen, and upper extremities. Patients also experience painful muscle spasms, sometimes triggered by touch or noise.
The onset of the disorder is usually gradual, and those who suffer from it may experience progressive worsening of symptoms. The experience of living with stiff person syndrome varies from person to person, depending on the severity of symptoms and response to treatment. Ultimately, stiff person syndrome affects walking ability, increases the risk of falls, and may require the assistance of a cane, walker, or wheelchair.
We are specialist neurologists treat a moving patient When neuroimmune diseaseBecause stiff-person syndrome is so rare, patients usually undergo extensive testing by multiple physicians before being diagnosed with the condition. Being the fourth doctor is not uncommon.
This was originally written by Bhavana Patel, Assistant Professor of Neurology, University of Florida, and Toge Lempe, Assistant Professor of Neurology at the University of Florida, conversation.
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biological basis
Stiff Person Syndrome is different from other neurological disorders such as Parkinson’s disease and multiple sclerosis. With each of these conditions, people may experience stiffness and cramps, but the underlying causes of symptoms are different in all three.
stiff person syndrome autoimmune disease – A broad term that describes when the body’s natural defense system erroneously attacks itself.
In the late 1980s, researchers discovered that: What are called “autoantibodies”Associated with stiff person syndrome. Antibodies are an important part of the body’s defense system that helps fight off infections and possible foreign substances. Thus, autoantibodies are those that mistakenly target specific receptors, cells, or organs in one’s own body. It was the discovery of one key autoantibody that gave physicians important insight into the law.
The human nervous system is made up of different pathways that prevent muscles from being over- or under-activated. An enzyme called glutamate decarboxylase (GAD) helps convert a neurotransmitter called glutamate (the chemical that nerve cells use to communicate) to gamma-aminobutyric acid (GABA). This process plays an important role in preventing excessive muscle activity.
Researchers found that 60% to 80% of people with classic stiff-person syndrome have high levels of an autoantibody called anti-GADAntibodies to GAD Prevents GABA formationwhich can lead to excessive muscle activity such as stiffness.
Anti-GAD appears to be the most common autoantibody in people with classic rigorous syndrome, but recent findings reveal additional antibodies It can also bring about conditions.
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treatment options
To date, there is no cure for stiff-person syndrome. Current treatments aim to improve stiffness and spasms and to modulate the immune system.
Various types of muscle relaxants are used to treat muscle tightness and spasms.Also shown are some anticonvulsants used to treat epilepsy reduce muscle spasms.
Doctors may also use treatments that target the immune system. Evidence is accumulating. intravenous immunoglobulin, may have an effect. Immunoglobulins, or antibodies, collected from thousands of healthy donors IV at regular intervals To improve the symptoms of stiff-person syndrome patients.
Alternative treatments for those who do not respond to these approaches may include antibody therapy with the drug rituximab. a procedure called plasmapheresis Autoantibodies are excluded. However, evidence regarding the effectiveness of these treatments is lacking.
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living with a diagnosis
Physicians like us still have much to learn about stiff-person syndrome, but increased awareness of the condition could lead to more timely diagnoses and accelerate research. As more people learn about it, they are more likely to recognize symptoms and seek treatment sooner.
Patients with mild disease and those who respond well to treatment can continue to function independently while continuing medical therapy. There is a possibility.
We recognize that the road to a stiff-person syndrome diagnosis is difficult and that getting a diagnosis can be life-changing. Through teams of qualified doctors and other support systems, researchers like us hope to help patients live their lives to the fullest.
