stiff-man syndrome


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stiff-man syndrome

 
a condition of unknown etiology marked by painful, progressive fluctuating rigidity of axial and limb muscles in the absence of signs of cerebral or spinal cord disease but with continuous electromyographic activity.

stiff-man syndrome

a condition of unknown cause characterized by progressive fluctuating rigidity of axial and limb muscles in the absence of signs of cerebral and spinal cord disease but with continuous electromyographic activity.
A rare disabling GABAergic autoimmune motor dysfunction with a 2:1 male:female ratio
Aetiology Autoimmune disorder linked to production of anti-GAD65 antibodies against glutamic acid decarboxylase in 60% of patients and pancreatic islet cells; remaining 40% have other autoantibodies. It is unclear whether anti-GAD antibodies cause the loss of spinal inhibition. Some patients with cancer-related stiff-person syndrome have autoantibodies against a 128 kD synaptic protein
Diagnosis Simultaneous video-electroencephalographic surface EMG demonstrates continuous motor unit activity in affected muscles at rest, abnormal activity of small gamma motor neurons
Management Benzodiazepines, cortisol if adrenocortical dysfunction, plasma exchange, IVIG—IV immunoglobulins are well-tolerated and effective
Associated disorders Epilepsy, type 1 diabetes and other organ-specific autoimmune disorders—e.g., myasthenia gravis, thyroiditis, adrenalitis
References in periodicals archive ?
Association of HLA-DQB1*0201 with stiff-man syndrome.
The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of stiff-man syndrome with breast cancer.
Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer.
Stiff-man syndrome in a woman with breast cancer: An uncommon central nervous system paraneoplastic syndrome.