Disease Directory Stiff Person Syndrome
Neurological

Stiff Person Syndrome

Also known as: SPS, stiff man syndrome, anti-GAD65 autoimmune syndrome, progressive encephalomyelitis with rigidity and myoclonus (PERM)

Prevalence

1-9 per 1,000,000 (Orphanet)

Onset

Adult

Type

Autoimmune

Gene

GAD1 (autoantigen)

About Stiff Person Syndrome

Stiff person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive fluctuating muscular rigidity of the trunk and proximal limbs, with painful episodic muscle spasms triggered by emotional stress, noise, or touch. Most patients have high-titer anti-GAD65 autoantibodies. SPS is associated with other autoimmune conditions, particularly type 1 diabetes. VGCC and glycine receptor antibodies define rarer variants. Treatment includes GABAergic medications and immunotherapy.

Common Clinical Features

Fluctuating trunk and limb rigidity Painful muscle spasms Exaggerated lumbar lordosis Hypersensitivity to stimuli Falls Anxiety and phobia Co-existing autoimmune conditions

Clinical Trial Eligibility Tips

What to know before applying to Stiff Person Syndrome trials.

Anti-GAD65 antibody titer (markedly elevated, typically >1000 IU/mL) is required for SPS diagnosis and trial eligibility

Stiffness index measurement and surface EMG documentation of continuous motor unit firing are objective eligibility markers

Immunotherapy trial history (IVIG, plasmapheresis, rituximab) must be documented — washout periods are required

SPS variants (PERM with glycine receptor antibodies vs. classic anti-GAD65 SPS) may have separate trial eligibility criteria

Patient Resources

Patient Organization

Stiff Person Syndrome Research Foundation

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:3198)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Stiff Person Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Stiff Person Syndrome. Updated daily.

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