Stiff-limb syndrome – presentation of a case report, diagnostic algorithm and treatment

Abstract

Stiff-limb syndrome (SLS) is a regional form of Stiff-person syndrome (SPS) clinically presented with fluctuating muscle rigidity and painful muscle spasms, often triggered by various sudden sensory stimuli. The main pathophysiological mechanism in SLS results from antibodies against glutamic acid decarboxylase (anti-GAD65 antibodies), leading to impaired metabolism of the neurotransmitter GABA and hyperexcitability of the spinal stretch reflex. Rarely the disorder can be caused by antibodies to amphiphysin or gephyrin. The neurological status, electrophysiological studies (EMG), imaging and serological tests for anti-GAD65 antibodies are essentialfor the diagnosis of SLS.
We present a 35-year-old female patient whose complaints (pain in the right shoulder spreading to the right arm and increased muscle tone in the right arm) date back four months. The patient has two other autoimmune diseases as co-morbidities – Diabetes mellitus type I and Hashimoto thyroiditis. The performed specific tests (EMG and titer of anti-GAD65 antibodies) confirm the clinical diagnosis. The patient underwent therapy with Diazepam 3x5 mg i.m., Baclofen 2x10 mg p.o. and Pregabalin 2x75 mg p.o., with a good therapeutic effect.