Stiff Person Syndrome: A Case Report

TL;DR

This case report describes a woman with symptoms resembling stiff person syndrome, highlighting the challenges in diagnosing and treating rare neurological disorders.

Contribution

The report emphasizes the diagnostic complexity of SPS and the importance of early recognition for effective treatment.

Findings

The patient exhibited symptoms like sleep paralysis and daytime fatigue, which can mimic other neurological conditions.

Diagnosis of SPS requires careful evaluation to avoid misdiagnosis with disorders like narcolepsy or sleep apnea.

Early recognition and a multidisciplinary approach are crucial for minimizing disease progression and improving outcomes.

Abstract

Stiff person syndrome (SPS) is a rare, debilitating, progressive autoimmune disorder affecting the central nervous system (CNS). Patients commonly present with muscle rigidity, gait impairment, and painful muscle spasms triggered by sensory stimuli. The classic form makes up the majority of SPS cases and is associated with anti-glutamic acid decarboxylase (anti-GAD) antibodies. GAD antibodies interfere with gamma-aminobutyric acid (GABA) synthesis, leading to the loss of inhibitory signals and contributing to the over-excitation of motor neurons.

We report the case of a 46-year-old woman who presented with recurrent and worsening episodes of sleep paralysis, daytime fatigue, nocturnal choking, and abnormal muscle movements triggered by lights, noises, and open spaces. Past medical history included anxiety and scoliosis. Physical examination revealed no muscle spasticity, but the patient endorsed difficulty with ambulation. A polysomnography was performed to rule out obstructive sleep apnea, and a multiple sleep latency test (MSLT) was initiated to rule out narcolepsy. The patient was diagnosed with hypersomnia. Sleep paralysis and excessive daytime sleepiness are sleep-related disturbances that may occur secondary to neurological or systemic conditions. While these symptoms are most commonly associated with narcolepsy and sleep apnea, they can also arise from a wide variety of neurological or systemic conditions. Treatment for this patient included 10 mg Adderall daily, frequent ambulation, and appropriate sleep hygiene to improve wakefulness. This case highlights the diagnostic complexity of this disorder, demonstrating the importance of clinical awareness. SPS can mimic other conditions, leading to misdiagnosis. This report aims to highlight the impact of early recognition on the initiation of therapy to minimize the progression of the disease. It stresses the importance of a multidisciplinary approach to treatment for the best clinical outcomes.