Stiff person syndrome
| Stiff person syndrome | |
| ICD-10 | G25.8 |
|---|---|
| ICD-9 | 333.91 |
| OMIM | 184850 |
| DiseasesDB | 12428 |
| eMedicine | neuro/353 |
| MeSH | D016750 |
Overview
Stiff person syndrome (SPS) (or occasionally, stiff-man syndrome) is a rare neurologic disorder of unknown etiology.
Historical Perspective
SPS was first described by Moersch and Woltman at the Mayo Clinic in 1956.[1]
Symptoms and prognosis
Prognosis is variable and there is no reliable predictor of speed and severity of disease onset. Muscle tetany may lead to muscle rupture and broken bones, or problems swallowing and breathing in severe cases.[2]
Postulated causes
Because many patients with SPS have circulating antibodies to the enzyme glutamic acid decarboxylase (GAD),[3] an autoimmune cause of the disease has been postulated. However, GAD antibodies cannot be the sole cause, as most Type I diabetics possess anti-GAD antibodies, yet the frequency of SPS among Type I diabetics is 1 in 10,000.[4] The GAD protein regions (epitopes) recognized by these antibodies may differ in each disease.[5]
Diagnosis
History
- 10% of patients have generalized seizures or myoclonus.
- Fixed thoracolumbar lordosis of the spine develops in nearly all cases from co-contraction of abd/paraspinal muscles.
Symptoms
- Marked rigidity and painful spasms, particularly in the thoracic and lumbosacral paraspinal, abdominal, and proximal lower extremity muscles
- Onset usually insidious
- Persistent contraction leads to a “board-like” quality.
- Intermittent painful spasms which may lead to falls due to instability.
- Spasms are NOT present during sleep.
Laboratory Findings
- Paraneoplastic cases often are GAD negative, and they have anti-Amphyphysin.
- The CSF is abnormal with increased IgG and oligoclonal bands.
- 65% have anti-GAD antibodies.
- Serum CK levels are often elevated due to a constant state of contraction of muscles.
Treatment
Treatment is mostly palliative with muscle relaxants which enhance GABA production such as benzodiazepines, which lose their effectiveness as the illness progresses.
In the absence of double-blind, placebo-controlled class A trials to determine treatment efficacy, some authorities recommend humane trials of immunosuppressive therapy, plasmapheresis or intravenous immunoglobulin infusion.
Pharmacotherapy
Acute Pharmacotherapies
- Benzodiazepines (enhance the affinity of GABA receptors)
- Oral or intrathecal baclofen
- Vigabatrin (irreversible inhibitor of GABA transaminase)
- Valproic Acid, Neurontin
- Injected botulinum toxin benefits some
- Prednisone, plasmapheresis, IVIG all used with some success, but no randomized trials
References
- ↑ Moersch FP, Woltman HW (1956). "Progressive fluctuating muscular rigidity and spasm ("stiff-man" syndrome); report of a case and some observations in 13 other cases". Mayo Clin Proc. 31 (15): 421–7. PMID 13350379.
- ↑ http://www.emedicine.com/neuro/topic353.htm#target1
- ↑ Murinson BB (2004). "Stiff-person syndrome". Neurologist. 10 (3): 131–7. PMID 15140273.
- ↑ Levy L, Dalakas M, Floeter M (1999). "The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid". Ann Intern Med. 131 (7): 522–30. PMID 10507962.
- ↑
See also
External links
- A site about the link between GAD and SPS at University of Birmingham Medical School
- Template:NINDS
- Article at Cleveland Clinic
- Article at eNotes
- GAD antibodies at antibodypatterns.com
- Amphiphysin antibodies at antibodypatterns.com