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GUIDE TO STIFF-PERSON SYNDROME
You learn it in first year medical school; when you hear hoof beats, think horses, not zebras.
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“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows tracings of her workings apart from the beaten paths; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease.”
~ William Harvey
At Mayo Clinic, physicians Dr. Frederick Moersch (1889-1975) and Dr. Henry Woltman (1889-1964) collected case studies of patients who presented with progressive, symmetrical rigidity of axial and proximal limb muscles.
In 1956, they presented a paper covering fourteen patients collected over thirty-two years. Ten patients were men and four were women. The average age of onset was forty-one years. All were progressive and responded poorly to treatments. Four had diabetes mellitus. Two had epilepsy: one with grand-mal seizures and one with petit-mal seizures. They concluded, because of the fluctuating nature of the symptoms and the association with diabetes, that a metabolic basis for the disease should be considered.
The disease was initially named Moersch-Woltman syndrome in their honor.
The patients suffered spasms triggered by startles from voluntary movement, touch, or emotional stress. This startle, stiffening, and fall response earned the nicknames tin-man syndrome and stiff-man syndrome.
When it became clear that women as well as men were affected by the disease, it was changed to stiff-person syndrome.
Stiff-person syndrome affects +/- one in a million people (7,000 out of 7 billion). This figure is possibly higher due to misdiagnoses and underreporting. It is represented by the National Organization for Rare Diseases (NORD).
The initial definition of stiff-person syndrome included axial stiffness and rigidity with superimposed spasms believed to be associated with anti-GAD antibodies. However, up to 40% of patients lacked the glutamic acid decarboxylase antibodies constituting what was believed to be an anti-GAD-negative variant. GAD-negative status is no longer considered a separate entity from classic stiff-person syndrome.
As more cases presented, multiple variations developed: stiff-baby, stiff-trunk, stiff-limb, jerking-limb, SPS with progressive encephalomyelitis with rigidity and myoclonus (PERM), and SPS with paraneoplastic syndrome. It is debated whether the variants represent different entities or are variable manifestations of the same entity.
Understanding of the disease has been expanded by hundreds of international case files, studies, and reviews. Though SPS is a rare disease, it is hoped that further studies will lead to finding the cause and developing new forms of treatment. In the meantime, we present an overview of what is currently known.
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ONE IN A MILLION