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What is Stiff-Man Syndrome?

Stiff-Man Syndrome is a rare neurological disorder characterized by progressively severe muscle stiffness, most commonly in the spine and lower extremities.

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Description

Stiff-Man Syndrome is a rare neurological disorder characterized by progressively severe muscle stiffness, most commonly in the spine and lower extremities.

Acknowledgement

Acknowledgement of Stiff-Man Syndrome has not been added yet.

Prevalence

0.01http://www.orpha.net

Synonyms

Synonyms for Stiff-Man Syndrome has not been added yet.

Cause

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.

Symptoms

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.

Diagnosis

Positive GAD65 antibodies can confirm diagnosis in about 60%

Diagnostic Test

Diagnostic tests of Stiff-Man Syndrome has not been added yet

Treatment

The most consistently effective therapy is benzodiazepines. Also, prednisone, immunoglobulin or plasmapheresis .

Prognosis

The course of SPS is variable.

Tips or Suggestions

Tips or Suggestions of Stiff-Man Syndrome has not been added yet.

References

References of Stiff-Man Syndrome has not been added yet.

Stiff-Man Syndrome Created by keepindafaith
Last updated 21 Jul 2014, 06:26 AM

Posted by lancastermtn
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 :)

Posted by ccpkoblentz
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"

Posted by ganana
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.

View Full Thread (5 more posts)

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Clinical Trials

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

Complete the screening form.
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Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.