Apa itu stiff person syndrome

Jakarta, CNN Indonesia --

Penyanyi Celine Dion mengungkapkan bahwa dirinya mengidap stiff-person syndrome (SPS). Kondisi tersebut bahkan membuatnya harus menunda rangkaian tur Eropa-nya.

Kabar itu disampaikan sang diva melalui sebuah unggahan video di akun Instagram-nya. Dengan emosional, Dion mengaku telah berhadapan dengan kelainan neurologis yang dialaminya.

"Baru-baru ini saya didiagnosis mengidap gangguan neurologis yang sangat langka, yang disebut stiff-person syndrome," ujar pelantun "My Heart Will Go On" tersebut dalam videonya, mengutip AFP.

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Kondisi tersebut kerap membuatnya mengalami kejang dan sulit berjalan. Dion juga kesulitan menggunakan pita suaranya untuk bernyanyi seperti biasa.

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Apa Itu Stiff-Person Syndrome?

Pada dasarnya, stiff-person syndrome adalah gangguan neurologis yang menyebabkan kekakuan dan kejang pada otot. Tak cuma itu, kondisi ini juga meningkatkan respons terhadap rangsangan seperti suara dan cahaya.

"[SPS] sering dikaitkan dengan kejang otot, yang bisa sangat parah. Kondisi ini bisa menyebabkan [pasien] jatuh, sakit parah, dan kecacatan yang signifikan," ujar dokter Emile Sami Moukheiber dari Stiff Person Syndrome Center di John Hopkins Medicine, mengutip CNN.

Kejang ini bahkan disebut cukup kuat untuk mematahkan tulang. Cedera parah juga bisa terjadi saat pasien terjatuh.

Kondisi ini termasuk dalam gangguan neurologis yang langka. Tercatat, hanya sekitar 1 juta orang di dunia yang mengidapnya.

Kasus pertama SPS dilaporkan pada 1950-an. Sejak saat itu, diketahui bahwa penyakit ini memengaruhi wanita dua kali lebih mungkin daripada pria.

Hingga saat ini, tak diketahui dengan pasti apa yang menyebabkan SPS. Namun, beberapa ahli menghubungkan SPS dengan kondisi autoimun.

National Institute of Neurological Disorders and Stroke mencatat orang dengan SPS mengalami peningkatan kadar GAD atau antibodi yang bekerja melawan enzim yang terlibat dalam sintesis neurotransmitter penting di otak.

Gejala Stiff-Person Syndrome

Gejala SPS biasanya berkembang selama beberapa bulan. Gejala juga bisa berlangsung stabil selama bertahun-tahun atau bahkan perlahan memburuk.

Menukil laman Rare Diseases, seseorang dengan SPS mungkin mengalami beberapa gejala berikut:

- kekakuan otot biasanya dimulai dari punggung bagian bawah dan kaki,
- kejang otot,
- sulit berjalan.

Seiring perkembangan penyakit, kekakuan pada otot kaki terus berkembang. Sering kali rasa nyeri terasa lebih intens di salah satu kaki. Kondisi ini menyebabkan pengidap kesulitan saat berjalan.

Saat tingkat kekakuan meningkat, individu yang terkena dapat mengembangkan postur tubuh yang bungkuk. Pada beberapa individu, kekakuan dapat menyebar pada lengan dan wajah.

Sementara kejang otot pada pasien SPS bisa terjadi tanpa alasan yang jelas. Kejang bahkan dapat dipicu oleh suara yang tak terduga atau keras, kontak fisik ringan, cuaca yang dingin, stres, atau situasi yang menyebabkan respons emosional yang meningkat.

Stiff person syndrome is a rare neurological condition that can take years to diagnose and tailor treatment.

Singer Celine Dion announced in an Instagram video Thursday that she is canceling some performances because she has been diagnosed with the condition.

PARIS, FRANCE - JULY 03: Celine Dion is seen, outside Valentino, during Paris Fashion Week Haute Couture Fall/Winter 2019/20, on July 03, 2019 in Paris, France. (Photo by Edward Berthelot/GC Images)

Celine Dion reveals she has a rare neurological syndrome

“While we’re still learning about this rare condition, we now know this is what’s been causing all of the spasms that I’ve been having,” Dion said.

What is stiff person syndrome?

Stiff person syndrome is characterized by muscle rigidity and spasms, heightened sensitivity to stimuli such as sound and lights, and emotional distress that can cause muscle spasms, according to the National Institute of Neurological Disorders and Stroke.

“It frequently is associated with muscle spasms, which could be quite severe. These can cause falls, severe pain and significant disability,” said Dr. Emile Sami Moukheiber of the Stiff Person Syndrome Center at Johns Hopkins Medicine. “Falls from severe spasms are very common. These spasms can be precipitated by startle, severe emotions, cold weather.”

These spasms can be strong enough to fracture bone, and any fall can lead to severe injury.

Dion said in her video that spasms affect “every aspect” of her daily life, “sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I’m used to.”

The syndromes symptoms can also cause anxiety.

“Many patients, if not all, have an anxiety that is intrinsic to the disease and that anxiety actually feeds on the physical ailments of the disease that people can have,” Dr. Scott Newsome, director of the Stiff Person Syndrome Center, said in a video on the organization’s website.

Who is affected by stiff person syndrome?

The condition affects about one a million people, and most general neurologists will see only one or two cases in their lifetimes, Moukheiber said.

The first case of stiff person syndrome was reported in the 1950s, according to Newsome, and the disease was historically referred to as “stiff man syndrome.”

Since then, it has been found to affect twice as many women than men, and the name was changed to stiff person syndrome to avoid confusion.

What causes stiff person syndrome?

Stiff person syndrome is thought to have features of an autoimmune disease, according to the National Institute of Neurological Disorders and Stroke.

Although the exact cause isn’t clear, according to the institute, “people with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.”

Because of the rarity of the disease and the ambiguity of its symptoms, people will often seek care for chronic pain before they get neurological care. On average, it takes about seven years for someone to receive a diagnosis of stiff person syndrome, Newsome says.

“Sometimes, [patients] get labeled crazy,” he said, “because on exam early on, there aren’t the hallmark features of stiff person syndrome.”

How is stiff person syndrome treated?

There is no known cure for stiff person syndrome, but medications can ease the symptoms. Immunoglobulin medications can help lower sensitivity to light or sound triggers, potentially helping head off falls or spasms.

Pain relievers, anti-anxiety medications and muscle relaxers can be a part of treatment for this disease. The Stiff Person Syndrome Center also uses botulinum toxin injections.

“If left untreated, the disease can cause severe impairment of daily living,” Moukheiber said.

But with treatment, symptoms can be controlled.

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Dion, who said she has struggled with her health for a while, said she has a great team of medical professionals and her children’s support.

“I’m working hard with my sports medicine therapist every day to build back my strength and my ability to perform again,” she said. “But I have to admit it’s been a struggle.”

For a performer like Dion, loud noises and bright lights could act as triggers to muscle spasms.

“This is a very challenging illness that might take a toll on her if it is not treated aggressively, timely and appropriately,” Moukheiber said.