Objective: To describe a case report of a patient with stiff person syndrome presenting with dystonia.

Background: Stiff person syndrome (SPS) is a rare autoimmune disorder of the central nervous system characterized by progressive muscle stiffness and spasticity involving predominantly axial muscles, leading to gait impairment. While the exact mechanism is unknown, it is associated with elevated levels of anti-glutamic acid decarboxylase antibodies, which target GABAergic neurons in the brain and spinal cord, and patients may have history of other autoimmune disorders. Dystonia, a neurologic condition involving simultaneous contraction of agonist and antagonist muscles, is not commonly described as a presenting symptom of SPS.

Method: This is a case report.

Results: A 58 year old woman with history of systemic lupus erythematosus and Addison’s disease presented to our center with a history of 7 years of progressive stiffness and difficulty walking, accompanied by development of contractures in the left hand and foot. On neurologic examination, she was anarthric and had abnormal dystonic posturing of the neck, left upper arm, forearm, hand, and left toe extension. She did not have hyperreflexia or spasms. Serum testing revealed elevated anti-GAD antibodies, >250 IU/mL. Treatment with IVIg and rituximab did not lead to significant symptomatic or serologic reduction. Needle EMG showed continuous motor unit activity potentials in flexor and extensor muscles of the left arm, and she was treated with Botulinumtoxin injections into the neck, arm, and leg with good effect, in addition to high dose baclofen and diazepam.

Conclusion: Limb dystonia can be a presenting symptom of SPS and have a focal appearance, despite SPS being commonly considered to predominantly affect axial muscles. Treatment with Botulinumtoxin injection in this case was used with positive symptomatic benefits.

« Back to MDS Virtual Congress 2021

MDS Abstracts - https://www.mdsabstracts.org/abstract/stiff-person-syndrome-presenting-with-dystonia/