Celine Dion's rare neurological condition has progressed and she's not able to control her muscles anymore, revealed her sister Claudette in an interview with 7 Jours. Dion last year said she suffered from stiff person syndrome, an autoimmune neurological disorder which could lead to muscle stiffness and spasms. The disorder that affects muscles of trunk and abdomen initially can progress to the limbs leading to hunched posture, gait issues and frequent falls. The stiffened muscles can be unpredictable and lead to spasms triggered by loud noises, sudden movements, or stress. While the disorder has no cure, physical therapy and medication can help manage symptoms.

What is Stiff Person Syndrome?

"Stiff Person Syndrome (SPS) is a rare, progressive autoimmune neurological disorder characterized by unrelenting muscle stiffness and debilitating spasms. Affecting an estimated 1 in a million individuals, SPS primarily targets the GABAergic system in the brain, responsible for inhibitory neurotransmission. In a healthy system, GABA (the primary inhibitory neurotransmitter in the brain) acts as a brake, calming down excited nerve cells. In SPS, however, an autoimmune attack disrupts this delicate balance, causing unchecked neuronal activity and its cascade of debilitating symptoms," says Dr Guruprasad Hosurkar, Additional Director - Neurology, Fortis Hospital, Bannerghatta Road.

A rare neurological condition known as stiff person syndrome (SPS) is characterised by spasms and rigidity in the muscles, which are frequently brought on by stress.

"An autoimmune component is thought to be involved. Muscle rigidity, spasms, hyperlordosis, and increased reflexes are among the symptoms. In addition to physical therapy, treatment involves immunosuppressive and muscle relaxant medications for symptom management, although there is no cure," says Dr Aditya Gupta, Director – CyberKnife, Artemis Hospital, Gurugram.

Causes of Stiff Person Syndrome

"Although the exact cause of stiff person syndrome (SPS) is unknown, an autoimmune component is usually thought to be involved. When SPS occurs, the immune system of the body attacks and wrongly targets the central nervous system, namely the inhibitory neurons that regulate muscular contraction. The typical muscle rigidity and spasms observed in SPS patients are caused by this immunological reaction," explains Dr Gupta.

Symptoms of Stiff Person Syndrome

The clinical picture of SPS is stark. Progressive muscle rigidity takes hold, primarily in the trunk and abdomen, but can extend to the limbs, resulting in a hunched posture, gait disturbances, and frequent falls.

"These stiffened muscles are prone to unpredictable and often excruciating spasms, triggered by seemingly innocuous stimuli like loud noises, sudden movements, or even emotional distress. Individuals with SPS find themselves living in a state of constant vigilance, forever on guard against the next involuntary muscle attack. This perpetual threat, coupled with the physical limitations imposed by the rigidity and spasms, understandably takes a significant toll on mental well-being, leading to anxiety and depression," says Dr Guruprasad Hosurkar.

Dr Gupta lists symptoms of the neurological disorder:

1. Muscle spasms: Prolonged, involuntary contractions of the muscles brought on by a variety of stimuli, including stress, noise, or abrupt movements.

2. Trigger factors: External stressors, such as mental stress or abrupt movements, can cause episodes of stiffness and spasms.

3. Postural disturbances: People may find it difficult to maintain a normal stance due to the stiffness, which can cause an unnatural and rigid posture.

4. Hyperlordosis: An excessive curvature of the lower back that results in an arched back.

Treatment/management of Stiff Person Syndrome

"While a definitive cure remains elusive, a multimodal approach involving neurologists, physiatrists, and pain specialists offers hope for symptom management and disease progression slowdown. Immunosuppressant medications dampen the misdirected immune response, while muscle relaxants and anti-seizure drugs provide relief from the agonizing spasms. In severe cases, an intrathecal baclofen pump directly delivers a potent muscle relaxant to the spinal cord for targeted action. Physical and occupational therapies play a crucial role in maintaining mobility, managing pain, and adapting to the constantly changing landscape of this condition," says Dr Hosurkar.

Since there isn't a known cure for Stiff Person Syndrome (SPS), treatment focuses on symptom relief and improving the patient's general wellbeing, says Dr Gupta.

• Medication is a major factor. To lessen the chronic muscle stiffness and spasms that are typical of SPS, doctors use muscle relaxants such baclofen or diazepam.
• The goal of immunosuppressive treatments like intravenous immunoglobulin (IVIG) and corticosteroids is to reduce inflammation and modify the immune response.
• Also, because stress has an impact on the worsening of symptoms, psychological support and stress-reduction strategies are also essential.
• Furthermore, plasmapheresis might be taken into consideration in extreme situations to eliminate dangerous antibodies from the circulation.

"Living with SPS demands resilience and an unwavering spirit. Yet, with the right support system, individuals can navigate the challenges and find fulfilling lives. Ongoing research holds promise for future advancements in treatment, with new strategies aimed at better understanding the immune system's role and potentially, one day, achieving a cure. So, if anyone encounter symptoms suggestive of SPS, prompt medical attention is crucial for early diagnosis and intervention, offering the best chance to mitigate the impact of this formidable disorder," concludes Dr Hosurkar.