Stiff person syndrome

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Stiff person syndrome
ICD-10 G25.8
ICD-9 333.91
OMIM 184850
DiseasesDB 12428
MeSH D016750

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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]

Classification

There are 3 categories of SPS, and they are as follows:

  1. SPS
  2. Progressive encephalomyelitis with rigidity (rapidly progressive disorder, fatal within 16 weeks)
  3. Stiff-limb syndrome (asymmetric rigidity and spasms in the distal extremities or face)

Causes

Because many patients with SPS have circulating antibodies to the enzyme glutamic acid decarboxylase (GAD),[2] 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.[3] The GAD protein regions (epitopes) recognized by these antibodies may differ in each disease.[4]

Differeniating Stiff Person Syndrome from other Diseases

One the basis of stiffness and fever it can be differentiated from:

Differential Diagnosis of Stiffness
Disease Diagnosis Treatment
Symptoms Signs Laboratory Findings
Tetanus[5][6]
  • Not significant
Neuroleptic Malignant Syndrome [7][8]
Viral Meningitis[9][10][11]
Stiff man syndrome
  • Marked rigidity
  • Spasms
    • Intermittent
    • Painful
    • Absent during sleep
Drug induced (Tardive dyskinesia)[12][13][14]
  • History of intake of the offending drug for at least one month
  • Eye deviation
  • Head and neck jerky movements
  • No tonic contraction of the muscles between the spasms
Strychnine poisoning[15][16][17][18]
  • Hx of up to date tetanus immunizations
  • History of intentional or accidental intake
    • Strychnos nux vomica seeds
    • Rodenticide
  • Hypervigilance
  • Anxiety
  • Mydriasis
  • Hypereflexia
  • Clonus
  • Facial and neck stiffness
  • Blood assay
  • Tissue assay
  • Urine assay
  • Initial stabilization
  • High dose Benzodiazepines
  • Intubation and airway securing
Hypocalcaemia[19][20]
Parkinson's disease[21][22]
  • Clinical diagnosis
  • Improvement with dopaminergic therapy confirms diagnosis

Natural History, Complications 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.[23]

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

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.[4] Some of the symptoms are listed below.

  • 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

References

  1. 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.
  2. Murinson BB (2004). "Stiff-person syndrome". Neurologist. 10 (3): 131–7. PMID 15140273.
  3. 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.
  4. 4.0 4.1 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.
  5. Woldeamanuel YW, Andemeskel AT, Kyei K, Woldeamanuel MW, Woldeamanuel W (2016). "Case fatality of adult tetanus in Africa: Systematic review and meta-analysis". J Neurol Sci. 368: 292–9. doi:10.1016/j.jns.2016.07.025. PMID 27538652.
  6. Thwaites CL, Loan HT (2015). "Eradication of tetanus". Br Med Bull. 116: 69–77. doi:10.1093/bmb/ldv044. PMC 4674006. PMID 26598719.
  7. Hosseini S, Elyasi F (2017). "Olanzapine-Induced Neuroleptic Malignant Syndrome". Iran J Med Sci. 42 (3): 306–309. PMC 5429500. PMID 28533580.
  8. Leenhardt F, Perier D, Pinzani V, Giraud I, Villiet M, Castet-Nicolas A; et al. (2017). "Pharmacist intervention to detect drug adverse events on admission to the emergency department: Two case reports of neuroleptic malignant syndrome". J Clin Pharm Ther. doi:10.1111/jcpt.12531. PMID 28488314.
  9. Chow E, Troy SB (2014). "The differential diagnosis of hypoglycorrhachia in adult patients". Am J Med Sci. 348 (3): 186–90. doi:10.1097/MAJ.0000000000000217. PMC 4065645. PMID 24326618.
  10. Leen WG, Willemsen MA, Wevers RA, Verbeek MM (2012). "Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice". PLoS One. 7 (8): e42745. doi:10.1371/journal.pone.0042745. PMC 3412827. PMID 22880096.
  11. Tyler KL (2004). "Herpes simplex virus infections of the central nervous system: encephalitis and meningitis, including Mollaret's". Herpes. 11 Suppl 2: 57A–64A. PMID 15319091.
  12. Deng ZD, Li DY, Zhang CC, Pan YX, Zhang J, Jin H; et al. (2017). "Long-term follow-up of bilateral subthalamic deep brain stimulation for refractory tardive dystonia". Parkinsonism Relat Disord. doi:10.1016/j.parkreldis.2017.05.010. PMID 28552340.
  13. "Valbenazine (Ingrezza) for tardive dyskinesia". Med Lett Drugs Ther. 59 (1521): 83–84. 2017. PMID 28520698.
  14. Voelker R (2017). "Tardive Dyskinesia Drug Approved". JAMA. 317 (19): 1942. doi:10.1001/jama.2017.5537. PMID 28510661.
  15. Charlotte Duverneuil, Geoffroy Lorin de la Grandmaison, Philippe de Mazancourt & Jean-Claude Alvarez (2004). "Liquid chromatography/photodiode array detection for determination of strychnine in blood: a fatal case report". Forensic science international. 141 (1): 17–21. doi:10.1016/j.forsciint.2003.12.010. PMID 15066709. Unknown parameter |month= ignored (help)
  16. B. A. Smith (1990). "Strychnine poisoning". The Journal of emergency medicine. 8 (3): 321–325. PMID 2197324. Unknown parameter |month= ignored (help)
  17. B. J. Maron, J. R. Krupp & B. Tune (1971). "Strychnine poisoning successfully treated with diazepam". The Journal of pediatrics. 78 (4): 697–699. PMID 5547830. Unknown parameter |month= ignored (help)
  18. B. Oberpaur, A. Donoso, C. Claveria, C. Valverde & M. Azocar (1999). "Strychnine poisoning: an uncommon intoxication in children". Pediatric emergency care. 15 (4): 264–265. PMID 10460082. Unknown parameter |month= ignored (help)
  19. Chhabra P, Rana SS, Sharma V, Sharma R, Bhasin DK (2016). "Hypocalcemic tetany: a simple bedside marker of poor outcome in acute pancreatitis". Ann Gastroenterol. 29 (2): 214–20. doi:10.20524/aog.2016.0015. PMC 4805743. PMID 27065735.
  20. Desai M, Kolla PK, Reddy PL (2013). "Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia". Case Rep Med. 2013: 197374. doi:10.1155/2013/197374. PMC 3792521. PMID 24171002.
  21. Olanow CW, Watts RL, Koller WC (2001). "An algorithm (decision tree) for the management of Parkinson's disease (2001): treatment guidelines". Neurology. 56 (11 Suppl 5): S1–S88. PMID 11402154.
  22. Connolly BS, Lang AE (2014). "Pharmacological treatment of Parkinson disease: a review". JAMA. 311 (16): 1670–83. doi:10.1001/jama.2014.3654. PMID 24756517.
  23. http://www.emedicine.com/neuro/topic353.htm#target1

See also

External links

de:Stiff-man-Syndrom



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