Stiff man syndrome

Stiff Person Syndrome Stiff Person Syndrome (SPS) is a rare neurological disorder characterized by progressive muscle stiffness and painful spasms. It is an autoimmune disease that affects the central nervous system, leading to significant impairment in mobility and quality of life.

Symptoms

The primary symptoms of Stiff Person Syndrome include:

• Muscle Stiffness: Persistent rigidity in the trunk and limbs, which can fluctuate in severity.
• Muscle Spasms: Painful spasms that can be triggered by noise, touch, or emotional stress.
• Postural Instability: Difficulty in maintaining balance, leading to frequent falls.

Causes

The exact cause of Stiff Person Syndrome is unknown, but it is believed to be an autoimmune disorder. The immune system mistakenly attacks the body's own tissues, particularly targeting the central nervous system.

Autoimmune Mechanism

SPS is often associated with antibodies against glutamic acid decarboxylase (GAD), an enzyme involved in the synthesis of the neurotransmitter gamma-aminobutyric acid (GABA). The reduction in GABA levels leads to increased muscle activity and stiffness.

Diagnosis

Diagnosing Stiff Person Syndrome involves a combination of clinical evaluation and laboratory tests:

• Clinical Evaluation: Assessment of symptoms and medical history.
• Blood Tests: Detection of anti-GAD antibodies.
• Electromyography (EMG): Measures electrical activity in muscles to assess stiffness and spasms.

Treatment

While there is no cure for Stiff Person Syndrome, treatments focus on managing symptoms and improving quality of life:

• Medications: Benzodiazepines and baclofen are commonly used to reduce muscle stiffness and spasms.
• Immunotherapy: Intravenous immunoglobulin (IVIG) and plasmapheresis may be used to modulate the immune response.
• Physical Therapy: Helps maintain mobility and prevent contractures.

Prognosis

The progression of Stiff Person Syndrome varies among individuals. With appropriate treatment, many patients can manage their symptoms effectively, although some may experience significant disability.

Research

Ongoing research aims to better understand the pathophysiology of SPS and develop more effective treatments. Studies are exploring the role of other autoantibodies and the potential for novel immunotherapies.

See Also

• Autoimmune Disorders
• Neurological Diseases
• Muscle Spasms

External Links

• [National Institute of Neurological Disorders and Stroke - Stiff Person Syndrome](https://www.ninds.nih.gov/Disorders/All-Disorders/Stiff-Person-Syndrome-Information-Page)
• [GARD - Genetic and Rare Diseases Information Center](https://rarediseases.info.nih.gov/diseases/10272/stiff-person-syndrome)

NIH genetic and rare disease info

• NIH info on Stiff man syndrome

Stiff man syndrome is a rare disease.