Bhavana Patel University of Florida and Toge Lempe, University of Florida
Famous singer Celine Dion shocked the world in early December 2022 when she announced she had rigorous syndrome, a rare neurological disorder, and the French-Canadian star was flooded with support. .
Until Dion’s revelation, most people probably had never heard of this condition. Yes, twice as many women as men have the disorder.
First reported in 1956, the quintessential and most common form of stiffness syndrome is characterized by muscle pain and fluctuating stiffness 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 neurologists who specialize in treating patients with movement disorders and neuroimmune disorders. Because stiff-person syndrome is so rare, patients usually undergo extensive testing by multiple physicians before being diagnosed with the condition. It is not uncommon to become the second doctor.
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 is an autoimmune disease, a broad term that describes the body’s natural defense systems mistakenly attacking itself.
In the late 1980s, researchers discovered what are known as “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 have found that 60% to 80% of people with classic stiffness syndrome have elevated levels of an autoantibody called anti-GAD. Antibodies against GAD prevent GABA formation. GABA can lead to excessive muscle activity such as stiffness.
Anti-GAD appears to be the most common autoantibody in patients with classic stiff-person syndrome, but recent discoveries have revealed additional antibodies that may cause this condition.
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, some anticonvulsant drugs used to treat epilepsy have been shown to reduce muscle spasms.
Doctors may also use treatments that target the immune system. Evidence is accumulating that one of his treatments, known as intravenous immunoglobulin, may be effective. Immunoglobulins or antibodies taken from thousands of healthy donors are routinely given intravenously to people with stiff-person syndrome to help improve symptoms.
Alternative treatments for those who do not respond to these approaches may include antibody therapy with the drug rituximab, or a procedure called plasmapheresis in which autoantibodies are removed. Evidence is lacking.
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.
Bhavana Patel, Assistant Professor of Neurology, University of Florida Torge Rempe, Assistant Professor of Neurology, University of Florida
This article is republished from The Conversation under a Creative Commons license. Please read the original article.
