One in a Million: A Case Report of Stiff Person Syndrome

Abstract

Stiff person syndrome (SPS) is a rare autoimmune disease caused by lack of inhibition to excitatory neurotransmitters in the central nervous system (CNS) leading to inappropriate motor unit firing. The pathophysiology is incompletely understood; however, high titers of antiglutamic acid decarboxylase antibody (anti-GAD Ab) are strongly associated with this disease. We present a 50-year-old woman with a history of ongoing gait and balance issues for 5 years with multiple negative workups. She recently had an acute exacerbation which left her bedbound, unable to move her legs or turn from side to side. After a negative workup at an outside hospital, the patient was discharged to a subacute rehabilitation facility. She then presented to our institution due to worsening of her condition and was ultimately diagnosed with SPS which was successfully treated. We review the case presentation and treatment options in the context of a severe disabling disease presentation.

Stiff-Person syndrome: A rare neurological disorder

“…Yadav et al reported a case of SPS with balance and gait abnormalities [11], whereas, Smith and Storey reported a case of SPS with acute onset vertical diplopia with subacute lower limb spasticity [12]. Dumitrascu et al [13] and Barker et al [14] reported some SPS patients presenting with urinary retention.…”

Stiff‐person syndrome revealing an occult gray zone lymphoma: A diagnostic challenge

“…Research indicates that autoimmune conditions and paraneoplastic disorders are the most prevalent causes of SPS. Considering autoimmune disease and paraneoplastic syndromes as the main causes of SPS, this reveals the importance of further investigation to determine the underlying etiology 3,4 …”

“…Considering autoimmune disease and paraneoplastic syndromes as the main causes of SPS, this reveals the importance of further investigation to determine the underlying etiology. 3,4 In this article, we report a case of an older adult who was admitted to the emergency department complaining…”

Stiff Person with Anti-GAD Antibodies

“…Stiff Person Syndrome (SPS) is a rare autoimmune disease with an estimated prevalence of 1 -2 cases per million people [1]. It is caused by a lack of inhibition of excitatory neurotransmitters in the CNS, leading to continuous involuntary muscle excitation [1].…”

“…Stiff Person Syndrome (SPS) is a rare autoimmune disease with an estimated prevalence of 1 -2 cases per million people [1]. It is caused by a lack of inhibition of excitatory neurotransmitters in the CNS, leading to continuous involuntary muscle excitation [1]. It has various presentations, including incomplete localized stiffness in only one limb (stiff limb syndrome, SLS) to fulminant stiff-ness with encephalomyelitis, brainstem dysfunction, and dysautonomia (progressive encephalomyelitis with rigidity and myoclonus, PERM) [2].…”