Stiff-Person Syndrome

Context: French-Canadian singer Celine Dion has opened up about being diagnosed with Stiff-Person Syndrome (SPS), a rare neurological condition that makes the muscles spasm uncontrollably.

Stiff-Person Syndrome

• It is a syndrome of fluctuating but progressive muscle stiffness and spasm that preferentially affects axial (back and abdominal) muscles
• It is a central nervous system disorder, meaning encephalomyelopathy, in which myelopathic features predominate in most patients. It frequently affects women with a median onset of 35 to 40 years of age

What are its causes?

• Spasms occur at any random time and can be triggered by loud noises, touch, and emotional distress.
• Autoimmune disease is caused by antibodies to proteins, resulting in impaired GABAergic (Gamma amino butyric acid) inhibition of the motor nerves in the brain and spinal cord.
• It is associated with GAD65 (Glutamic acid decarboxylase) and amphiphysin antibodies.
• 70 per cent of patients with GAD antibodies have diabetes mellitus as comorbidity.
• It is associated with other autoimmune diseases like cerebellitis, myasthenia gravis, hypo/hyperthyroidism, rheumatoid arthritis, systemic lupus erythematosus
• The malignancies associated with stiff-person syndrome are breast cancer, ovarian cancer, and small cell carcinoma of the lung

Common Symptoms

• SPS is known to affect the body posture of a person due to severe pain and stiffness in muscles in the trunk (torso), arms and legs.
• But symptoms can also include a person having greater sensitivity to noise, touch, and emotional distress

Treatment

• Since it is a rare disease with heterogenous clinical manifestations, the diagnosis may be delayed by an average of six years following symptom onset
• Treatment involves the use of both symptomatic agents to enhance GABAergic influences and Immuno modulating treatment aimed at the autoimmune basis of the disease.
• In patients with paraneoplastic Stiff Person Syndrome, identification and eradication of the underlying malignancy can alleviate symptoms

Source: The Indian Express