Stiff-person syndrome (SPS) is an autoimmune disease associated mainly with antibodies to glutamic acid decarboxylase (GAD) or to glycine, characterised by intermittent painful spasms, stiffness and rigidity of the proximal and truncal muscles. Neuro-ophthalmological and gastrointestinal symptoms also occur. The symptoms are caused by neuronal excitability due to impaired inhibitory (gamma amino butyric acid [GABA] and glycine) neurotransmission. SPS is part of a larger spectrum of GAD antibody-spectrum disorders, which overlaps with autoimmune epilepsy, cerebellar ataxia, myoclonus, progressive encephalomyelitis, rigidity and myoclonus (PERM) and limbic encephalitis. PERM is often caused by antibodies against the glycine receptor. Some SPS cases are paraneoplastic. Diagnostic delay is often associated with irreversible disability, and therefore, clinicians need a high degree of clinical suspicion to make an earlier diagnosis. This review updates the various clinical presentations that should raise suspicion of SPS and its related conditions and includes a diagnostic algorithm and various treatment strategies including immunotherapy and GABA-ergic drugs.

Stiff-person syndrome is a rare autoimmune disorder manifested by stiffness in the trunk and proximal limb muscles and painful muscle spasms in them. The disease is associated with the production of glutamate decarboxylase autoantibodies, an enzyme converting glutamate into gamma-aminobutyric acid. An increase of anti-GAD antibody serum levels above 10.000 IU/mL is specific for stiff-person syndrome. Our own clinical observation of a patient diagnosed with stiff-person syndrome is presented.

Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive axial muscle stiffness, central nervous system hyper-excitability, and painful stimulus-sensitive muscle spasms. SPS is classified into classic SPS and SPS variants, including stiff-limb syndrome (SLS) and progressive encephalomyelitis with rigidity and myoclonus (PERM), based on clinical presentation. SPS responds to immunotherapy, and several autoantigens have been identified. Most patients with SPS have high-titers of antibodies against glutamic acid decarboxylase (GAD), the rate-limiting enzyme for the synthesis of γ-aminobutyric acid (GABA), and up to 15% of the patients have antibodies against the glycine receptor α-subunit.

Stiff-person syndrome (SPS) is a neurological disorder characterized by fluctuating muscle rigidity and painful spasms that occur spontaneously or are triggered by diverse stimuli. Partial or segmental forms of the disorder, such as stiff-limb syndrome (SLS) and the more severe disease called progressive encephalomyelitis with rigidity and myoclonus (PERM), are usually considered within the spectrum of SPS. SPS responds to immunotherapies, and several autoantigens have been identified. Most patients with SPS have high titers of antibodies against glutamic acid decarboxylase (GAD), the enzyme that limits the rate of the synthesis of γ-aminobutyric acid (GABA), and up to 15% have antibodies against the glycine receptor α-subunit.

Stiff-person syndrome or Moersch-Woltmann is a very rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms involving axial and limb musculature. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. We describe a patient of stiff person syndrome.