www.thetinman.org Copyright © All rights reserved.
There is, to date, no extensive textbook on stiff-person syndrome.
In Muscle Pain, Understanding Its Nature, Diagnosis, and Treatment (2001), stiff-person syndrome earns a paragraph:
“This rare condition has recently been reviewed. The term is a misnomer; women are equally affected. Diagnostic criteria include slowly progressive stiffness of the axial and proximal limb muscles; intermittent painful muscle spasms that are spontaneous (or that are triggered by sensory stimulation, emotion, movement, or passive stretching of the muscle); positive EMG findings (including at rest); and suppression of EMG activity by sleep, anesthesia, myoneural nerve block, and nerve block. Muscle histology is normal. Symptoms begin with intermittent aching and tightness of axial limb muscles followed by continuous board-like stiffness that interferes with mobility. The muscle spasms can become severe enough to fracture the neck of the femur. Despite this, in one patient the condition was diagnosed as psychogenic. Stiff-man syndrome is of spinal or brainstem origin and shows evidence of being an autoimmune disease.”
In Disorders of Voluntary Muscle, Eighth Edition (2010), stiff-person syndrome earned a single short paragraph:
“Two neurogenic disorders with prominent muscle over-activity are neuromyotonia and stiff-person syndrome. […] “In stiff-person syndrome the axial and then limb muscles develop severe painful spasms and stiffness giving rise to spinal deformity and gait disturbance. Most cases are associated with antibodies to glutamic acid decarboxylase, an enzyme crucial in inhibitory GABAergic pathways.”
The same basic data is reiterated in one or two paragraphs on the National Organization of Rare Disorder web site, National Institute of Neurologic Disorders and Stroke website, and the Movement Disorders web site.
The entries provide little depth of understanding of the disease with no mention of variants, stages, progression, and scarce information on testing and treatment options. The most in-depth information can be found on the Medscape website.
A comprehensive list of publications on the topic of stiff-person syndrome, its variants, etc. is presented here. Information about stiff-person syndrome for this site was built from these (and additional cited) studies, abstracts, reviews, and case reports.
To this end, a review of one-hundred and thirty abstracts, studies, and case reports was undertaken and can be viewed in the pdf file: Defining Stiff Person Syndrome: A Comprehensive Review of Current Literature. D. Hurwitz 2014.
Stiff-person patients require special handling when it comes to psychological evaluation, anesthesia and surgery, emergency care, and pregnancy. Detailed information is presented in the appropriately titled sections.
Information regarding testing for stiff-person syndrome can be found in the Testing section.
In addition, it is important to understand not just the treatment options available, but the biochemistry behind the options, how those options affect the body as a whole, and the risks and benefits of each option. Since stiff-person syndrome is often found in a setting of autoimmune endocrine diseases, it is important to understand the impact of treatment options on the endocrine system.
Thyroid and diabetes medications can interfere with each other. Benzodiazepines can affect thyroid medications and diabetes medications. Benzodiazepines have been shown to inhibit T3 uptake into the cells of the body. They may alter insulin secretion and insulin sensitivity. Benzodiazepines can cause an acute lowering of serum cortisol levels. Moreover, chronic use of opioids, antipsychotics and benzodiazepines can cause GABA-induced suppression of CRH release leading to low cortisol levels. Endocrinologists are not well-versed in the intricacies of these drug interactions.
1. Khadem-Ansari MH, Ahani A, Mikaeili P, Rasmi Y. Effect of benzodiazepines on thyroglobulin, anti-thyroglobulin, anti-thyroid peroxidase, and thyroid stimulating hormone in rat. Clin Neuropharmacol. 2011 Nov-Dec;34(6):248-55. doi: 10.1097/WNF.0b013e31823429a7 Link to article.
2. Grandison L. Actions of benzodiazepines on the neuroendocrine system. Neuropharmacology 1983;22:1505-10. Link to article.
3. Beary MD, Lacey JH, Bhat AV. The neuro-endocrine impact of 3-hydroxy-diazepam (temazepam) in women. Psychopharmacology (Berl) 1983;79:295-7. Link to article.
4. Clark F, Hall R, Ormston BJ. Diazepam and tests of thyroid function. Br Med J 1971;1:585-6. Link to article.
5. Saldanha VF, Bird R, Havard CW. Effect of diazepam (Valium) on dialysable thyroxime. Postgrad Med J 1971;47:326-8. Link to article.
6. Eiris-Punal J, Del Rio-Garma M, Del Rio-Garma MC, Lojo-Rocamonde S, Novo-Rodriguez I, Castro-Gago M. Long-term treatment of children with epilepsy with valproate or carbamazepine may cause subclinical hypothyroidism. Epilepsia 1999;40:1761-6. Link to article.
7. Camoratto AM, Grandison L. Inhibition of cold-induced TSH release by benzodiazepines. Brain Res 1983;265:339-43.
8. Chevassus H, Mourand I, Molinier M, Lacarelle B, Brun JF, Petit P. Assessment of single-dose benzodiazepines on insulin secretion, insulin sensitivity and glucose effectiveness in healthy volunteers: a double-blind, placebo-controlled, randomized cross-over trial. BMC Clinical Pharmacology 2004, 4:3 doi:10.1186/1472-6904-4-3. Link to article.
9. Salice VS, Valenza FV, Pizzocri MP, et al. Benzodiazepines induce hyperglycemia in rats by affecting peripheral disposal of glucose. Critical Care 2013, 17(Suppl 2):P385 doi:10.1186/cc12323. Link to article.
10. Giordano R, Grottoli S, Brossa PC, et al. Alprazolam (a benzodiazepine activating GABA receptor) reduces the neuroendocrine responses to insulin-induced hypoglycaemia in humans. Clinical Endocrinology Volume 59, Issue 3, pages 314–320, September 2003. Link to article.
11. Tella SH, Gallagher JC. Relationship of Benzodiazepines with Serum Cortisol Levels: A Hidden Fact. Pharmacopsychiatry. 1986 Jan;19(1):19-22 Link to article.
“Doctors… love a good zebra…. Patients with rare, exotic diseases.… We crowd around to see them, touch them, photograph them. We put them on display at conferences. We write their stories in journals. We do all this, I suspect, because they reawaken the spirit that first pushed us into medicine: a fascination with the human body, its incredible achievements and its terrifying failings.” ~ from One Hundred Days: My Unexpected Journey from Doctor to Patient, Dr. David Biro