Stiff person syndrome: what is it, what is its prognosis?

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Reaching the stiff man syndrome, “Stiff Person Syndrom” or “Stiff-man syndrome”, Celine Dion cancels all her concerts until April 2024. This neurological disease is responsible for significant muscle spasms.

There singer Celine Dion, 55, announced to be suffering from “stiff person syndrome” (SPS) in English, or Stiff-man syndrome in French, also called stiff-man syndrome (SHR)in a video posted on his instagram account THE December 8, 2022. “We know it’s the cause of muscle spasms from which I suffer. These spasms affect my everyday life on many levels. I sometimes have great difficulty walking or using my vocal cords to sing […] It’s a continual fight“, explained the singer. Her condition has not improved, so much so that she announced on May 26, 2023 cancel all its concerts scheduled until April 2024. “It’s better to cancel everything until I’m really ready to go back on stage. I want you to know that I’m not giving up…” she wrote in a press release relayed on Twitter. What is this disease? What are the symptoms ? The management of ? Does it have an impact on life expectancy?

Definition: what is stiff-man syndrome?

The stiff person syndrome or Stiff-man syndrome or stiff man syndrome (SHR) in French, is a very rare neurological diseasewhose prevalence is estimated at about 1 in 1 million people. Approximately 2/3 of patients affected would be womenwith a peak incidence around 45 years old according Orpha.net website, portal for rare and orphan diseases. It is manifested mainly by a stiffness of the trunk muscles with spinal deformity, and painful spasms. This syndrome was first described in 1956 by Moersch and Woltman, two American neurologists.

What are the symptoms of Stiff-man syndrome?

The clinical picture is very evocative. This neurological disease is characterized by:

A progressive muscle stiffness which can lead to immobility of the trunk and hips
A stiff and atypical gait
Of the spontaneous muscle spasms or reflexes, painful, which can cause falls and episodes of fracture
A agoraphobia, associated with the performance of certain tasks
A tendency to jump excessively
Of the ankylosing deformities, such as a fixed lumbar posture hyperlordosis (emphasis of curvatures either at the cervical level or at the lumbar level)

What is the life expectancy in case of Stiff-man syndrome?

Generally, symptoms stabilize with treatment instituted by benzodiazepines. However, most patients still have a clear functional limitation. The vital prognosis is not a priori impacted. When stiff-person syndrome is associated with progressive encephalomyelitis with rigidity and myoclonus (called PERM), the prognosis is somewhat more severe and the symptoms are more difficult to control.

What is the cause of Stiff-man syndrome?

The cause of this pathology is still not certain. Nevertheless, it would seem that we find the presence ofanti-glutamic acid decarboxylase antibodies (GAD) in more than 70% of cases, which suggests that it is a autoimmune pathogenesis. These antibodies could block the synthesis of gamma amino-butyric acid (GABA), an inhibitory neurotransmitter, thus leading to a decrease in inhibition of spinal motor neurons (responsible for muscle contraction). According a study published in the Lettre du rhumatologue n°269, we frequently find an association with autoimmune diseases, such as insulin-dependent diabetes (in 30% of cases), dysthyroidism, vitiligo, Biermer’s anemia. In 5 to 10% of cases, we note occurrence of epileptic seizures. “The link between these two pathologies is not clear.“, can we read in the article published in the journal of the rheumatologist.

The diagnosis of this pathology is essentially based on clinical examination. It is then confirmed by the demonstration ofcirculating anti-GAD antibodies and characteristic electromyographic abnormalities visible during a electromyography (EMG). In order to exclude other – mechanical – pathologies such as herniated disc or the presence of a cyst in the spinal cord, it may be necessary to carry out a CT scan of the spinal cord. Also to exclude spinal cord diseases such as multiple sclerosis or tumours. A cerebrospinal fluid examination also helps to eliminate an inflammatory process.

What is the treatment for Stiff-man syndrome?

To treat the symptoms of the disease, the doctor may prescribe benzodiazepines (particularly the Diazepam®) that slow down brain activity and baclofen. Diazepam is generally admitted intravenously or orally at a dosage of 10 to 100 mg per day, a dosage of course to be adapted according to effectiveness and side effects. Immuno-modulatory therapies (corticosteroids, intravenous immunoglobulins, plasmapheresis) can be proposed, but with variable results. Rehabilitation with the physiotherapist must often be undertaken in order to combat the spasms.

Orpha.net site, portal for rare and orphan diseases
Stiff-man syndrome or stiff man syndrome, the letter from the Rheumatologist number 269 of February 2021

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