Stiff Person Syndrome
What is Stiff Person Syndrome?
Stiff Person Syndrome is a rare neurological disorder characterized by progressively severe muscle stiffness, most commonly in the spine and lower extremities.
Stiff Person Syndrome is a rare neurological disorder characterized by progressively severe muscle stiffness, most commonly in the spine and lower extremities.
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http://www.emedicine.com/neuro/TOPIC353.HTM http://www.ninds.nih.gov/disorders/stiffperson/stiffperson.htm http://my.clevelandclinic.org/disorders/stiff-person_syndrome/hic_stiff-person_syndrome.aspx http://healthlink.mcw.edu/article/921988627.html http://www.med.yale.edu/neurol/programs/neuromuscular/stiff_man.html ... Excerpt....The symptom complex of SMS suggests a derangement of physiology mediated by spinal cord reflexes however the specific mechanism of disease has not been defined. Stiffness, spasms, pain, trigger response and falls could all result from failed modulation of spinal cord reflexes. The neurons controlling these functions use gamma-aminobutyric acid (GABA) as a neurotransmitter and are called GABAergic neurons. GAD (glutamic acid decarboxylase) is an enzyme which produces GABA and is localized to the synaptic nerve terminal. GAD is the protein antigen that is specifically bound by the anti-GAD auto-antibodies found in approximately half of SMS patients. First described by Solimena and coworkers in 1988, at high titer anti-GAD autoantibodies are almost exclusively associated with SMS. Sporadic reports of association with cerebellar ataxia, type I (autoimmune) diabetes and autoimmune polyendocrine syndrome have been made. At low titer anti-GAD antibodies are found in type I diabetes; pancreatic beta cells, like GABAergic neurons, express GAD. Although the presence of high titer anti-GAD antibodies is highly specific for SMS, the role that the humoral immune system plays in pathogenesis of this disease is unclear. It is not known whether the antibodies have a causative role or are the consequence of a process that leads to impairment of neurotransmission. Please link to find more information.
Progressively severe muscle stiffness typically develops in the spine and lower extremities; often beginning very subtly during a period of emotional stress. Most patients experience painful episodic muscle spasms that are triggered by sudden stimuli. An auto-immune component is typical and patients often have other auto-immune disorders.
Positive GAD65 antibodies can confirm diagnosis in about 60%
The most consistently effective therapy is benzodiazepines. Also, prednisone, immunoglobulin or plasmapheresis .
The course of SPS is variable.
Last updated 21 Jul 2014, 06:26 AM
21 Jul 2014, 06:26 AM
I have SPS had multiple positive GAD antibodies while already on Immine globulin therapy due to having CVID...long story. I am on diazepam along with hizentra infuse daily and they upped my dose of mycofenilate mofitile now not having severe spasm attacks that cause me to fall as much. Literally had 4 to 5 severe attacks a week then once All my doctors talked. .what a concept ... I am now starting to slow the progression down or so it seems that way. Staying positive and having a doctor that "won't give up on me" helps dramatically :)
23 Mar 2011, 08:21 PM
Hi all, I hope you still check once in a while. Ask about baclofen. I think it comes in tablets as well as intrathecal (pumped into your spine). My niece has this disease, as well as MS, and she has the aggressive form. She is in a wheelchair, and no longer on a ventilator with the IViG. She can move again. "Aunt Merry"
17 Feb 2010, 06:11 PM
I'm no longer able to work as of the end of Jan. '10. On Long Term Disability & going to try for SS disability.
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Stiff-Man Syndrome
Created by keepindafaith | Last updated 21 Jul 2014, 06:26 AM
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