Celine Dion muscle stiffness syndrome: causes, symptoms, treatment

In December 2022, the iconic singer postponed several concerts after announcing she had an incurable neurological condition. The 55-year-old Celine Dion was diagnosed with muscle stiffness syndrome, or rigid man syndrome, also known as stiff man syndrome.

According to the singer’s sister, Claudette Dion, the condition has affected Celine’s ability to walk and sing. She cannot control her muscles.

In May 2023, the singer addressed her fans on social media and announced that the tour had been canceled.

I am so sorry to disappoint you all again. I’m working very hard to regain my strength, but touring can be very difficult, even when you’re 100 percent ready. It’s not fair to you all to keep putting off shows, and even though it breaks my heart, it’s best to cancel now until I’m really ready to get back on stage again. I want you all to know that I’m not giving up…and I can’t wait to see you again!

neurologist at the Hadassah branch of the Skolkovo International Medical Cluster.

“It is impossible to assess the singer’s condition without a face-to-face examination. The singer’s rare appearances at social events, refusal to perform most concerts, most likely, indicate that she has not yet managed to cope with the disease, and, unfortunately, most likely, there is no stable remission on the background of ongoing treatment, which would allow her to return to the stage”.

Turinys

What is stiffness syndrome?

Muscular stiffness syndrome or rigid man syndrome was first described in 1956 by American neurologists Mursch and Woltman. The disease was discovered in a man with gradually progressive stiffness of the muscles of the upper half of the trunk. At that time the authors proposed the term “stiff man syndrome” (man), but after the appearance of descriptions of clinical cases of the disease in women, the word “man” was proposed to be replaced by “man”.

To date, this disease is detected in both young and elderly people: the average age of patients is 44-45 years. It is important to note that muscle stiffness syndrome is extremely rare: one or two cases per one million. Women get the disease twice as often as men.

In 2000, this pathology was first identified in animals, and since then we know that stiffness syndrome occurs in horses and dogs.

Causes of the disease

Rigidity syndrome affects the central nervous system, but manifests with neuromuscular symptoms. The causes of the disease are still not fully understood.

Most researchers agree that it has an autoimmune nature. This concept is supported by the fact that patients with frequent stiffness syndrome also have type 1 diabetes or other autoimmune diseases such as vitiligo, pernicious anemia, thyroiditis.

In 1988, antibodies to the enzyme glutamate decarboxylase (anti-GAD), which is involved in the synthesis of the nervous system’s main inhibitory neurotransmitter, gamma-aminobutyric acid (GABA), were first discovered in patients suffering from the condition.

It is now believed that rigid man syndrome can be autoimmune, paraneoplastic, that is, develop against the background of cancer (less than 2% of all cases), or with an unidentified cause, in other words, idiopathic.

Symptoms of the disease

Based on the leading symptoms, several subtypes of muscle stiffness syndrome can be distinguished:

classical syndrome, in which stiffness and muscle spasms manifest themselves primarily in the lower half of the back and legs;
leg stiffness syndrome, in which the distal parts of the leg, i.e. the lower leg, the foot and often asymmetrically, more strongly on one side, are more involved;
rigid man plus syndrome – this condition is characterized by a combination of the classical variant and additional neurological disorders, such as: instability due to cerebellar lesion, lesion of brainstem structures;
the most severe variant of the disease is PERM: acquired hyperekplexia (a state of sharp fright at a sudden sound or touch that causes severe muscle spasm and tension) and potentially fatal progressive encephalomyelitis with rigidity and myoclonus (short-term rapid contraction of a muscle or muscle group).

In the clinical picture of rigidity syndrome, we can distinguish primarily two main symptoms: increased tone (hypertonicity) of the trunk muscles, flexors and extensors, and episodic painful muscle spasms.

Increased muscle tone along the spine at the level of the lumbar spine leads to the formation of hyperlordosis – excessive lumbar flexion. Such patients are characterized by increased sensitivity to external stimuli: Episodes of painful muscle spasms are provoked by external stimuli, such as a sharp sound, touch.

Due to the increasing stiffness of the muscles, patients have difficulty performing the simplest skills, a walking disorder is formed. With the progression of the disease, falls are possible, accompanied by serious injuries, since protective reflexes do not work in conditions of muscle hypertonus, there is a shift in the center of gravity.

Increased tone and spasms are also noted in the muscles of the anterior abdominal wall. Due to improper contraction of muscle fibers in the intestines, constipation and nausea occur, and due to improper functioning of the sphincters of the bladder, urinary disorders develop.

In addition to symptoms related to the muscular system, most patients also have visual problems, breathing is impaired, more than half of patients develop an anxiety disorder and nearly 50% develop depression. When cognitive function testing is performed, about 70% have memory impairment, and 40% have decreased attention and speed of task performance.

How to diagnose the disease

In order to make a diagnosis, special criteria have been developed. Doctors study the results of functional diagnostics – electroneuromyography, and also evaluate the main symptoms of the disease: muscle spasms, stiffness of the muscles of the trunk, constant tension of the back muscles, plank-like tension of the abdominal muscles.

In addition, laboratory diagnostics can help to make the correct diagnosis: detection of antibodies to glutamic acid decarboxylase and the presence of concomitant autoimmune endocrine diseases.

Rigidity syndrome is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic diseases, anxiety and phobia.

How to treat

Until recently, the basis of treatment was considered the drugs of the benzodiazepine series, which have sedative, sleeping, antianxiety, anticonvulsant, anticonvulsant, myorelaxant action.

However, given the frequent pronounced side effects and indications of the autoimmune nature of the disease, gradually the first line of therapy is the introduction of intravenous immunoglobulins, the use of hormonal therapy, carrying out methods of purification of plasma from toxic substances: plasmapheresis and plasma exchange.

It is worth remembering that in the basis of about 2% of cases of rigid man syndrome is a paraneoplastic process, when symptoms manifest themselves against the background of cancer. In this case, everything will depend on the timely detection and effectiveness of treatment of cancer.

In other cases, the prognosis of patients is very different. This disease causes damage to many organs and systems, and the life expectancy of patients is directly related to the success of treatment of the developed complications.

Is stiff man syndrome fatal?

Death from stiff muscle syndrome is rare, reports Johns Hopkins University. Fatalities usually occur not as a result of the condition itself, but due to complications such as blood clots or wound infections due to immobility. In some extreme cases, chest muscle spasms can affect a person’s ability to breathe.