Stiff-Person Syndrome / Resources

By Gloria M. Rivera

This week, singer Celine Dion announced that she suffered from Stiff Person Syndrome (SPS)[síndrome de la persona rígida (SPR)].

SPS is a neurological disorder [trastorno neurológico] that presents neuromuscular symptoms [manifestaciones neuromusculares].

The most common symptoms are:

  • stiff muscles  [rigidez muscular] in trunk  [tronco o torso], arms, and legs.
  • spasm [espasmos]

Stiffness [rigidez] and spams [espasmos] are progressive, which causes disability and rigidity in the entire body.

The cause can be autoimmune [autoinmunitario], paraneoplastic [pananeoplásico], or idiopathic [idiopático].

Sourcehttps://dtme.ranm.es

It is suspected to have an autoimmune origin since it happens at the same time as  type 1 diabetes, vitiligo, thyroiditis, and pernicious anemia.

Frequently, it is incorrectly diagnosed as Parkinson Disease  [enf. de Parkinson], multiple sclerosis [esclerosis múltiple], fibromyalgia [fibromialgia], enf. psicosomática [psychosomatic illness] or anxiety.

About 60% of patients with classic SPS have high levels of anti-glutamic acid decarboxylase, GAD) [antiglutamato-decarboxilasa,>GAD)].

Diagnosis is confirmed if patients has symptoms and an elevated GAD.

Treatment is symptomatic, by controlling symptoms. Patients usually are prescribed:

  • oral diazepam: medication for anxiety and muscle relaxant. This is the drug of choice.  
  • baclofen or gabapentin: medication for muscle spasms. 
  • IV immunoglobulin IV: improves symptoms for up to a year.


Below, you can find links to reliable resources where you can find more information about stiff-person syndrome.

Gloria

  • Genetic and Rare Disease Information Center (GARD): this site is managed by the National Center for Advancing Translational Sciences (NCATS), a part of the National Institutes of Health (NIH) and the Federal government agency responsible for biomedical research. Here, you can find information about genetic and rare diseases, such as stiff-person syndrome. 
    https://rarediseases.info.nih.gov/diseases/5023/stiff-person-syndrome
  • National Organization for Rare Disorders (NORD): is a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.  They also have a LOT of info about rare diseases, like a rare disease database( and even a rare disease video library! 
    https://rarediseases.org/rare-diseases/stiff-person-syndrome