Rigidity and spasms from autoimmune encephalomyelopathies: stiff-person syndrome.

摘要: Stiff-person syndrome (SPS) is a disorder characterized by progressive muscle rigidity with superimposed painful spasms and gait impairment due to continuous motor activity. Evidence has accumulated in favor of SPS representing an autoimmune, predominantly encephalomyelopathic resulting from B-cell-mediated clonal production autoantibodies against presynaptic inhibitory epitopes on the enzyme glutamic acid decarboxylase (GAD) synaptic membrane protein amphiphysin. Recognition clinical spectrum important, particularly upper-limb, cervical, cranial nerve involvement that occurs paraneoplastic variants. The correlation between antibody levels severity disease offers evidence for pathogenic role anti-GAD anti-amphiphysin autoantibodies. scarcity neuropathological correlates stand sharp contrast disability affected individuals suggests functional circuits without structural damage sufficient develop full SPS. rarity this condition limits feasibility controlled trials treatment SPS, but available suggest drugs increase cortical spinal inhibition such as benzodiazepines provide immune modulation intravenous immunoglobulin, plasmapheresis, prednisone are effective treatments.