Stiff person syndrome
Classification & external resources
Stiff person syndrome (SPS) (or occasionally, stiff-man syndrome) is a rare neurologic disorder of unknown etiology.
SPS was first described by Moersch and Woltman at the Mayo Clinic in 1956.
Symptoms and prognosis
Those with the illness experience progressive, fluctuating tonic muscle contractions, particularly the axial musculature. Depression and anxiety are often noted although this may be a result of discomfort due to stiffness, rather than underlying neurochemical abnormalities.
MRI detection of GABA in the brain have demonstrated reduced levels in stiff-person syndrome.
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.
Because many patients with SPS have circulating antibodies to the enzyme glutamic acid decarboxylase (GAD), 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. The GAD protein regions (epitopes) recognized by these antibodies may differ in each disease.. A mutation in GLRA1 (glycine receptor) is responsible for some cases of stiff person syndrome.
Treatment is mostly palliative with muscle relaxants which enhance GABA production, such as benzodiazepines. These treatments 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. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.
Monoclonal antibody rituximab has produced long-lasting remissions. Clinical trials of this treatment are underway.
- ^ 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.
- ^ a b Hampe C, Hammerle L, Bekris L, Ortqvist E, Kockum I, Rolandsson O, Landin-Olsson M, Törn C, Persson B, Lernmark A (2000). "Recognition of glutamic acid decarboxylase (GAD) by autoantibodies from different GAD antibody-positive phenotypes". J Clin Endocrinol Metab 85 (12): 4671-9. PMID 11134126.
- ^ 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.
|Nervous system pathology, primarily CNS (G00-G47, 320-349)|
of the CNS
|Meningitis (Arachnoiditis) - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis|
primarily affecting the CNS
|Huntington's disease - Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia)|
Spinal muscular atrophy: Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome -
MND (Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Progressive bulbar, Pseudobulbar, PLS)
|Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia (Spasmodic torticollis, Meige's syndrome, Blepharospasm) - Essential tremor - Myoclonus - Chorea (Choreoathetosis) - Restless legs syndrome - Stiff person syndrome|
|Other degenerative /|
|Alzheimer's disease - Pick's disease - Alpers' disease - Dementia with Lewy bodies - Leigh's disease - Multiple sclerosis - Devic's disease - Central pontine myelinolysis - Transverse myelitis|
|Seizure/epilepsy||Focal (Simple partial, Complex partial) - Generalised (Tonic-clonic, Absence, Atonic, Benign familial neonatal) - Lennox-Gastaut - West - Epilepsia partialis continua - Status epilepticus (Complex partial status epilepticus)|
|Headache||Migraine (Familial hemiplegic) - Cluster - Vascular - Tension|
|Vascular||Transient ischemic attack (Amaurosis fugax, Transient global amnesia) - Cerebrovascular disease (MCA, ACA, PCA, Foville's syndrome, Millard-Gubler syndrome, Lateral medullary syndrome, Weber's syndrome, Lacunar stroke)|
|Sleep disorders||Insomnia - Hypersomnia - Sleep apnea (Ondine's curse) - Narcolepsy - Cataplexy - Kleine-Levin syndrome - Circadian rhythm sleep disorder - Delayed sleep phase syndrome - Advanced sleep phase syndrome|
|Other||Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension - Encephalopathy - Brain herniation - Cerebral edema - Reye's syndrome - Syringomyelia - Syringobulbia - Spinal cord compression|