TN 7 (08-12)
DI 23022.905 Stiff Person Syndrome
COMPASSIONATE ALLOWANCE INFORMATION
STIFF PERSON SYNDROME
Stiff Man Syndrome; Stiffperson’s Syndrome; Moersch-Woltmann Syndrome; Moersch-Woltman Condition; SPS; SMS; Stiff Baby Syndrome; Focal Stiff Person Syndrome; Stiff Limb Syndrome; Jerking Stiff Person Syndrome; Progressive Encephalomyelitis with Rigidity and Myoclonus; PERM
Stiff Person Syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by muscle rigidity that waxes and wanes with painful muscle spasms, progressive muscle stiffness in the trunk and extremities, abnormal posture, and sensitivity to stimuli such as noise, touch, and emotional distress.
SPS is frequently associated with other autoimmune diseases such as diabetes and thyroiditis. Other diseases associated with SPS include breast cancer, epilepsy, and paraneoplatic syndrome.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: SPS is diagnosed by testing profiles including anti-GAD (glutamic acid decarboxylase), antipancreatic islet cell and anti-amphiphysin antibodies. Electromyelography (EMG) is commonly obtained; EEF and lumbar puncture may be used as diagnostic tools. Imaging tests are indicated only in special cases.
Physical findings: Increased muscle tone, spasticity of axial muscles initially, then later involving proximal extremities, lumbar lordosis; stimulus may induce painful spasms that are slow to resolve. End stage disease with nearly all muscles involved; may have joint deformities and fractures.
ONSET AND PROGRESSION
SPS may begin at any age, most commonly between 30 – 50 years of age.
Individuals with SPS may experience frequent falls with severe injuries because they lack normal defensive reflexes. SPS can occur in children including infants, although presentation is different from adults. Infants with this disorder are markedly hypertonic at birth and are at high risk of sudden infant death. In some cases, muscle tone becomes almost normal by 3 years of age, but generally reappears by adolescence.
There currently is no cure for SPS, and management focuses on relieving symptoms. Treatment may include benzodiazepine, anticonvulsant medications, intrathecal baclofen, plasmaphersis, intravenous immunoglobulin, and physical or occupational therapies. Psychiatric treatment may be considered when symptoms of depression or anxiety are prominent.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Clinical history and examination that describes the diagnostic features of the impairment, progression of neurological symptoms, response to medication, and evaluative tests that rule out other causes of stiffness.
Special antibody testing (see above), particularly anti-GAD antibodies
Suggested Listings for Evaluation:
Listing level neurological findings must be documented; diagnosis or laboratory testing results alone do not meet listing severity.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.