Name of disease:

ICD-10 diagnosis code:

Causes:

• SPS is believed to be an autoimmune disorder wherein the body’s immune system attacks healthy tissues.
• Most people with SPS have unique antibodies in their blood that are produced by the body. These antibodies which block the glutamic acid decarboxylase (GAD) enzyme are called anti-GAD65 antibodies. GAD helps make the gamma-aminobutyric acid (GABA) neurotransmitter.
• When GABA is produced in the body in the right amount it reduces or blocks certain nerve signals.
• If GABA does not function as expected, nerve cells can act in incorrect ways.
• For people with SPS the nervous system becomes hyperexcitable without the proper amount of GABA. This results in physical symptoms such as muscle spasms as well as psychological symptoms including anxiety. The common triggers of SPS symptoms are also thought to be related to GABA pathway disruption.

Prevalence:

Diagnosis:

• A diagnosis of SPS depends on multiple factors.
• A detailed medical history, physical exam, blood test, and other lab tests can support the diagnosis.

Age of onset:

Common signs and symptoms:

• Muscle rigidity, stiffness, and painful spasms
• Non-linear symptom progression. The stiffness and rigidity do not necessarily progress at the same rate or intensity as the muscle spasms.
• Changes in posture. People can develop an exaggerated sway back posture called lordosis. Some develop a hunched posture in the upper spine called kyphosis.
• Mobility may be impacted.
• The risk of falling may heighten anxiety and lead to reluctance or a fear of leaving one’s home.
• Potential complications with breathing. Some patients can develop shortness of breath or a sense of requiring more work to breathe.

Available treatment (medicinal and non-medicinal):

• There is no cure for SPS. Treatment currently focuses on relief from difficult symptoms, usually spasms and pain.
• Muscle relaxants for relieving muscle spasms and pain
• Anti-seizure medication may help with pain management
• Other therapies which may help with SPS muscle spasms or pain include:
  - Physical therapy, myofascial release, massage therapy, heat therapy, acupuncture, acupressure, yoga, meditation and aqua therapy
  - Different types of talk therapy, cognitive behavioural therapy and medications in the SSRI category may help SPS patients to address depression and anxiety
• Immune therapies aim to modify or suppress the immune system. Immune-based therapies for SPS include:
  - Intravenous or subcutaneous immunoglobulin
  - Plasma exchange
  - Intravenous immunosuppressant therapy
  - Oral immunosuppressant therapy

Disease management tips:

• Working with a doctor who is familiar with SPS
• Adhering to a multipronged treatment plan
• Stretching
• Yoga

References:

• https://www.orpha.net/en/disease/detail/3198
• https://www.hopkinsmedicine.org/health/conditions-and-diseases/stiff-person-syndrome-sps
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868164/
• https://stiffperson.org/what-is-stiff-person-syndrome/understanding-sps/diagnosing.html
• https://www.hopkinsmedicine.org/health/conditions-and-diseases/stiff-person-syndrome-sps
• https://www.stiffperson.org/understanding-sps