According to Orphanet, the portal for rare diseases and orphan drugs, the peak incidence is around 45 years of age and symptoms evolve over months or years.
Muscle stiffness often fluctuates (i.e. it gets worse and then better) and usually occurs at the same time as muscle spasms.
These spasms can occur randomly or be triggered by a variety of different events, including a sudden noise or slight physical contact.
If left untreated, RPD can potentially progress to difficulty walking and have a significant impact on a person's ability to perform routine daily tasks.
Although the exact cause of this syndrome is unknown, it is believed to be an autoimmune disease and sometimes occurs with other autoimmune diseases.
The diagnosis is essentially based on clinical observation and is confirmed by the detection of certain antibodies and characteristic electromyographic abnormalities (detected during a specific examination).
A CT scan of the spinal cord can rule out mechanical causes such as the presence of a herniated disc or cyst in the spinal cord.
The first cases were documented in 1956. Stiff person syndrome has been described in the medical literature by many different names. Originally called stiff man syndrome, the name has been changed because the disorder can affect people of any age and both sexes. In fact, most people with the disease are women.
It is an extremely rare disease. According to the American organization NORD, which aims to provide support to people with rare diseases, the incidence would be about 1 in a million.
Treatment is aimed at relieving the specific symptoms that occur in each individual, which often requires non-drug approaches (stretching, thermotherapy, aquatherapy, massage therapy, acupuncture, etc.).
Some medications may also be used to treat muscle stiffness and episodic spasms.
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