Stiff-person syndrome--DEEPER lOOK

Contributors Publication dates Originally released September 2, 1994; last updated June 7, 2010; expires June 7, 2013 Synonyms Stiff-man syndrome Key points • Stiff-person syndrome is a rare disorder that causes continuous muscle contraction with spasm, abnormal postures, and progressive disability. • Stiff-person syndrome is often associated with other autoimmune signs and symptoms as well as nonspecific and organ-specific plasmapheresis is variable. dysphagia with disordered esophageal and gastric motility (Soykan and McCallum 1997). Total esophageal obstruction due to spasm of the cricopharyngeus muscle has also been reported (Sulway et al 1970). ataxia, oculomotor abnormalities, and rigidity. Voluntary movements are restricted in range and slowed. The gait is slow and deliberate, resembling that of "a tin soldier" (Ornsteen 1935).GAD) antibodies and evidence of other autoimmune disease; it responds to pharmacotherapy with myoclonus progresses to death within months and may be associated with grossly abnormal cerebrospinal fluid (Barker et al 1998). The latter syndrome is often a paraneoplastic syndrome and may be associated with antibodies to glutamic acid decarboxylase, amphiphysin I, geophysin, or Ri antibodies (Butler et al 2000; Dalakas et al 2000; Wessig et al 2003; McCabe et al 2004; Grant and Graus 2009; Mehta et al 2009; Graus et al 2010). Currently accepted clinical criteria for the diagnosis of stiff-person syndrome include: (1) insidious onset of muscular rigidity with difficulty turning or bending, with rigidity most prominent in the limbs and axial muscles, especially abdominal and thoracolumbar; (2) co-contraction of agonist and antagonist muscles, confirmed clinically and electrophysiologically; (3) episodic spasms superimposed on the underlying rigidity, precipitated by noise, tactile stimuli, or emotional upset; and (4) absence of other neurologic or other diseases that could explain the symptoms (Dalakas 1999). Early studies noted a relationship between stiff-person syndrome and type I diabetes mellitus in as many as 60% of patients (Dalakas et al 2000). Other autoimmune disorders, including thyroiditis (Gorin et al 1990), and autoimmune retinopathy have been described (Steffen et al 1999). Antibodies to GAD can be detected in up to 85% of patients with stiff-person syndrome using immunocytochemistry or radioimmunoassay. GAD antibodies are not specific for the diagnosis of stiff-person syndrome, but titers are higher than in other patients with GAD antibodies, including those with type I diabetes mellitus (Daw et al 1996). Among stiff-person syndrome patients with GAD antibodies, other autoantibodies were common (Dalakas et al 2000). Jerking stiff-man syndrome resembles stiff-person syndrome; in addition to the chronic muscle spasm, though, there are rapid, violent, nocturnal, or pain associated with exaggerated lumbar lordosis. Superimposed on EMG demonstrated continuous firing of paraspinal and leg muscles.