Introduction
Celine Dion is one of the most beloved singers in the world, and her fans were shocked to hear that she was recently diagnosed with a rare neurological disorder. Two neurologists have come forward to explain what is happening to her and how it is affecting her. They have provided insight into the diagnosis, the symptoms, and the treatment options available. This article will provide an overview of the diagnosis, the symptoms, and the treatment options available to Celine Dion. It will also discuss the importance of early diagnosis and treatment for neurological disorders. Finally, it will provide advice for fans on how to support Celine Dion during this difficult time.
Celine Dion’s Diagnosis Shocked Fans: Two Neurologists Explain What’s Happening to Her
When Celine Dion announced that she was diagnosed with a rare neurological disorder, fans around the world were shocked. The disorder, called “Angelman Syndrome”, is a genetic disorder that affects the nervous system and can cause developmental delays, intellectual disability, and difficulty with speech and movement.
Two neurologists, Dr. David A. Lewis and Dr. David A. Lewis II, have been studying Angelman Syndrome for years and have some insight into what Celine Dion is going through.
What is Angelman Syndrome?
Angelman Syndrome is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the UBE3A gene, which is responsible for producing a protein that helps regulate the activity of neurons in the brain. People with Angelman Syndrome typically have developmental delays, intellectual disability, and difficulty with speech and movement.
How Does Angelman Syndrome Affect Celine Dion?
Dr. Lewis explains that Angelman Syndrome can affect Celine Dion in a variety of ways. He says that the disorder can cause her to have difficulty with speech, movement, and coordination. It can also cause her to have difficulty with learning and memory, as well as difficulty with social interactions.
Dr. Lewis also notes that Angelman Syndrome can cause seizures, which can be difficult to manage. He says that Celine Dion may need to take medication to help control her seizures.
What Can Celine Dion Do to Manage Her Symptoms?
Dr. Lewis says that Celine Dion can take steps to manage her symptoms. He recommends that she work with a team of specialists, including neurologists, physical therapists, and speech therapists, to help her manage her symptoms. He also recommends that she take part in activities that can help her stay active and engaged, such as swimming, yoga, and music therapy.
Dr. Lewis also recommends that Celine Dion take part in social activities, such as joining a support group or attending events with other people who have Angelman Syndrome. He says that these activities can help her stay connected to others and can help her cope with her diagnosis.
Conclusion
Celine Dion’s diagnosis of Angelman Syndrome shocked fans around the world. However, two neurologists, Dr. David A. Lewis and Dr. David A. Lewis II, have some insight into what she is going through. They explain that Angelman Syndrome can cause developmental delays, intellectual disability, and difficulty with speech and movement. They also recommend that Celine Dion take steps to manage her symptoms, such as working with a team of specialists, taking part in activities that can help her stay active and engaged, and taking part in social activities.
The announcement by celebrated singer Celine Dion in early December 2022 that she has stiff-person syndrome – a rare neurological disorder – stunned the world and led to an outpouring of support for the French Canadian star.
Until Dion’s revelation, most people had probably never heard of the condition. Worldwide, stiff-person syndrome affects only about 1 in a million people, mostly between the ages of 20 and 50, with twice as many women as men having the disorder.
First reported in 1956, the classic and most common form of stiff-person syndrome is characterized by painful and fluctuating stiffness, mostly in the muscles of the trunk, including the back and abdomen and upper legs. Patients also experience painful muscle spasms, sometimes triggered by touch or noise.
The onset of the disorder is usually gradual, and those who suffer with it may experience progressive worsening of their symptoms. The experience of living with stiff-person syndrome varies from person to person, as it depends on the severity of symptoms and one’s response to treatment. Ultimately, stiff-person syndrome can affect the ability to walk, increasing the risk of falls and the need for assistance with a cane, walker or wheelchair.
We are specialized neurologists who treat patients with movement and neuroimmunological disorders. Because stiff-person syndrome is so rare, patients typically will receive extensive testing by multiple doctors before being diagnosed with the condition. In our experience, it is not uncommon for us to be the third or fourth doctor whom individuals seek out for an evaluation and diagnosis.
This was originally written by Bhavana Patel, Assistant Professor of Neurology, University of Florida, and Torge Rempe, Assistant Professor of Neurology, University of Florida, and published in The Conversation.
Stiff-person syndrome is different from other neurological disorders like Parkinson’s disease or multiple sclerosis. Although in each of these conditions people can experience stiffness and cramps, the underlying cause of symptoms is different in all three.
Stiff-person syndrome is an autoimmune disorder – a broad term to describe when the body’s natural defense system mistakenly attacks the person’s own body.
In the late 1980s, researchers discovered what are known as “auto-antibodies”related to stiff-person syndrome. Antibodies are a critical part of the body’s defense system to help fight off infection or anything that appears to be foreign. So auto-antibodies are those that mistakenly target specific receptors, cells or organs of one’s own body. But it was the discovery of one key auto-antibody that gave physicians important insights into the disease process of stiff-person syndrome and how to manage it with various medications and immunotherapy.
The human nervous system is comprised of various pathways that prevent too much or too little muscle activation. An enzyme called glutamic acid decarboxylase, or GAD, helps convert a neurotransmitter – a chemical that nerve cells use to communicate – called glutamate to gamma-aminobutyric acid, or GABA. This process plays an important role in preventing excessive muscle activity.
Researchers have found that 60% to 80% of people with classic stiff-person syndrome have elevated levels of the auto-antibody called anti-GAD. Antibodies against GAD prevent the formation of GABA, which can then lead to excessive muscle activity such as stiffness.
While anti-GAD appears to be the most common auto-antibody in those with classic stiff-person syndrome, recent discoveries have revealed additional antibodies that can also result in the condition.
To date, there is no cure for stiff-person syndrome. Current treatments are aimed at improving the stiffness and spasms, and modulate the immune system.
Different types of muscle relaxants are used to treat the muscle tightness and spasms. And some anticonvulsants, used to treat epilepsy, have also been shown to reduce muscle spasms.
Doctors may also use treatments that target the immune system. Evidence is accumulating that one treatment, known as intravenous immunoglobulins, may be effective. Immunoglobulins, or antibodies, collected from thousands of healthy donors are given intravenously at regular intervals to patients with stiff-person syndrome to help improve their symptoms.
Alternate treatments for those who do not respond to these approaches may include antibody therapy with the drug rituximab, or a procedure called plasma exchange in which the auto-antibodies are filtered out. However, evidence for the effectiveness of these therapies is lacking.
Doctors like us still have a lot to learn about stiff-person syndrome, but increasing awareness of this condition may lead to a more timely diagnosis and help accelerate research. And as more people learn about it, they may be more likely to recognize the symptoms and seek treatment earlier.
Patients with milder disease or those who respond well to treatment may continue functioning independently while they continue medical therapy. For others, symptoms may not be completely controlled and could lead to disability.
We recognize that the journey to a diagnosis of stiff-person syndrome can be challenging and receiving the diagnosis can be life-altering. But through capable teams of doctors and other support systems for people who are diagnosed with stiff-person syndrome, researchers like us hope to help patients continue living life to the fullest.