Rare Endocrinology News
Spotlight On
Stiff person syndrome (SPS)
A rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord
Prevalence
1-9 / 1,000,000
Age of Onset
ICD-10
G25.8
Inheritance
This condition does not appear to have a clear pattern of inheritance.
5 Facts you should know
FACT
Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility
FACT
Initially, stiffness occurs in the thoracolumbar paraspinal and abdominal muscles
FACT
People with SPS often have heightened sensitivity to noise, sudden movements, and emotional distress, which can set off muscle spasms
FACT
Spasms can generate enough force to fracture a bone
FACT
Persistent symptoms can lead to abnormal posturing of the spine
Interest over time
Google searches
Common signs & symptoms
Anxiety
EMG abnormality
Falls
Hyperhidrosis
Intermittent painful muscle spasms
Agoraphobia
Autoimmune antibody positivity
Difficulty walking
Current treatments
Treatment aims to control symptoms and improve mobility and function. While some people on treatment for SPS may maintain reasonable levels of activity, the majority become increasingly disabled over time. Treatment options depend on the symptoms and severity in each person and may include:
Benzodiazepines these are drugs that slow down the nervous system and may relieve muscle spasms and anxiety. They are generally considered the best initial therapy for SPS. Examples include diazepam and clonazepam.
Baclofen this is a muscle relaxant that may be used for people in whom benzodiazepines are not effective or not well-tolerated. Some people benefit from using baclofen in addition to benzodiazepines.
Immune modulating therapies these may be considered in people with severe symptoms who do not experience relief with benzodiazepines and baclofen. Options may include intravenous immune globulin (IVIG) therapy, plasmapheresis (also called plasma exchange), and rituximab. However studies supporting the effectiveness and safety of these therapies for SPS are limited.
Physical therapy and occupational therapy are also an important part of management for SPS and may help with side effects of medications (such as weakness) in addition to symptoms of the disease.