The syndrome of a rigid person with myoclonus and disautonomy: a description of the case

The syndrome of a rigid person is a rare autoimmune disease characterized by progressive muscular rigidity, walking disorders and painful spasms in axial muscles and limbs provoked by external stimuli. The syndrome has a different clinical phenomenology, it can be manifested by myoclonus, vegetative and emotional disorders, combined with epilepsy and dystonia, and neuro-ophthalmologic manifestations. The pathogenesis of the syndrome is associated with a violation of GABAergic transmission as a result of the interaction of specific antibodies with glutamate decarboxylase (glutamate decarboxylase), an enzyme involved in the synthesis of y-aminobutyric acid. Taking into account the pathogenesis in the treatment of this disease, GABAergic drugs (diazepam in high doses, etc.) and immunosuppressive therapy are used. We give our own observation of a patient with an atypically occurring syndrome of a rigid person.

syndrome of rigid man, glutamate decarboxylase, immunosuppressive therapy, disautonomy, clinical case