einstein (São Paulo). 10/jun/2025;23:eAI0881.
Stiff-person syndrome manifesting as unilateral extrinsic ocular musculature paresis
DOI: 10.31744/einstein_journal/2025AI0881
Stiff-person syndrome (SPS) is an autoimmune disease classically characterized by progressive muscular stiffness and lower back pain with sudden episodes of muscular spasm and, in certain cases, dysautonomia.() In general, the disease is diagnosed based on the presence of high anti-glutamic acid decarboxylase (anti-GAD) antibody titers both in the serum and cerebrospinal fluid (CSF), axial muscle stiffness in the special abdominal and thoracolumbar paraspinal fluid leading to hyperlordosis, painful spasms with well-defined triggers, electromyographic evidence of continuous motor unit activity, and the exclusion of alternative diagnoses.() In general, the disease evolves with trunk stiffness, followed by progressive limb rigidity and muscle hypertrophy.()
Although the SPS-related literature is well-established, little evidence is available concerning the ophthalmological manifestations of this disease.(,) Recently, certain studies discussed the potential association of GAD with the extrinsic muscular paresis of the eye, leading to ptosis and diplopia.()
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