What is stiff person syndrome?

Updated: Jun 14, 2018
  • Author: Nancy Theresa Rodgers-Neame, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Stiff person syndrome is rather unique among neurologic diagnoses because of its lack of significant similarity to any other neurologic diseases. Although rare, once observed it is quite unforgettable. Possibly the closest related disease is tetanus because both conditions affect peripheral inhibition via central mechanisms and both conditions inhibit central gamma-aminobutyric acid (GABA) systems. [1]

In 1956, Moersch and Woltmann, who also coined the term stiff man syndrome, first clearly described stiff person syndrome as a neurologic clinical entity at the Mayo Clinic. [2] The eponym for this syndrome, Moersch-Woltmann syndrome, is one of the few instances in which the eponym may be the most inclusive and at the same time the most appropriately limiting name for the disease. [2] The term stiff person may be seen to exclude infants, and stiff man is inappropriate for children and women; perhaps stiff individual most perfectly describes the affected patient.

Clinically, stiff person syndrome is characterized by muscle rigidity that waxes and wanes with concurrent spasms. [3, 4] Usually, it begins in the axial muscles and extends to the proximal limb muscles, but the severity of the limb muscle involvement may overwhelm the axial muscle involvement (stiff limb syndrome). [5, 6, 7, 8, 9, 4] Some confusion has occurred as a result of cases that include other neurologic findings, such as encephalomyelitis, epilepsy, cerebral palsy, or cerebellar deficits, sometimes in addition to the classic clinical syndrome. [10, 11, 12, 13, 14, 15, 16]

The pathophysiology of the disease is autoimmune. [17, 18, 19, 20, 21, 9, 3, 22] The most common pathologic correlate, anti–glutamic acid decarboxylase (GAD) antibodies, has been associated with a wide range of neurologic diseases. It is also associated with a number of non-neurologic diseases, including diabetes mellitus and thyroiditis. [23]


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