Stiff-person syndrome

Stiff-person syndrome is a rare autoimmune neurological disorder marked by muscle stiffness and painful spasms, often triggered by sound, touch, or emotional stress.

GAD65: GAD65 is an enzyme that helps produce gamma-aminobutyric acid, a major inhibitory neurotransmitter. Autoantibodies against this enzyme are common in stiff-person syndrome and can impair inhibitory signaling.
Electromyography: Electromyography records the electrical activity of skeletal muscles using electrodes. Continuous motor-unit activity on electromyography can support the diagnosis.
Progressive encephalomyelitis with rigidity and myoclonus: Progressive encephalomyelitis with rigidity and myoclonus is a severe autoimmune neurological syndrome involving brainstem and spinal-cord dysfunction. This related syndrome adds prominent brainstem or autonomic features to rigidity and spasms.
Stiff-limb syndrome: Stiff-limb syndrome is a variant of stiff-person syndrome in which rigidity and spasms predominantly affect one limb. It shows that the disorder can remain localized rather than affecting the trunk.
Gamma-aminobutyric acid: Gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the mammalian central nervous system. Reduced inhibitory control helps explain the persistent muscle activity and spasms.
Anti-GAD antibody: Anti-GAD antibodies target glutamic acid decarboxylase, an enzyme involved in neurotransmitter production. High antibody levels can support diagnosis, though they do not prove the syndrome alone.
Dystonia: Dystonia is a movement disorder involving sustained or intermittent muscle contractions that cause abnormal movements or postures. Dystonia causes patterned contractions, unlike the persistent axial stiffness typical of this syndrome.
Anti-amphiphysin antibody: Anti-amphiphysin antibodies target a protein involved in synaptic vesicle function and are associated with some neurological autoimmunity. These antibodies can mark a paraneoplastic form, often associated with breast cancer.
Glycine receptor: The glycine receptor is an inhibitory neurotransmitter receptor found mainly in the spinal cord and brainstem. Antibodies to this receptor occur in some related cases and can disrupt spinal inhibition.
Intravenous immunoglobulin: Intravenous immunoglobulin is a treatment that delivers pooled antibodies from donated blood plasma. Clinical trials found it can reduce stiffness and improve function in some patients.

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Céline DionRelated: Dion publicly disclosed the condition in 2022, leading her to postpone and cancel performances.