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$Unique_ID{BRK04238}
$Pretitle{}
$Title{Stiff Man Syndrome}
$Subject{Stiff Man Syndrome Muscular Rigidity Progressive Spasm
Moersch-Woltmann Syndrome SMS }
$Volume{}
$Log{}
Copyright (C) 1987, 1989, 1991 National Organization for Rare Disorders, Inc.
326:
Stiff Man Syndrome
** IMPORTANT **
It is possible the main title of the article (Stiff Man Syndrome) is not
the name you expected. Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Muscular Rigidity - Progressive Spasm
Moersch-Woltmann Syndrome
SMS
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Stiff Man Syndrome is a very rare neurological disorder. It is characterized
by progressive rigidity and spasm of the voluntary muscles of the neck, trunk,
shoulders, and proximal extremities.
Symptoms
Stiff Man Syndrome is characterized by progressive muscular rigidity. Aching
and tightness of the voluntary muscles of the body and limbs are usually the
first symptoms. Profuse sweating and a rapid heart beat (tachycardia) may
accompany the muscle spasms. Muscles of the neck, trunk, shoulders, and
proximal extremities may be involved on both sides of the body. During
attacks of muscular spasm, contractions such as sharp bending and twitching
may occur in the muscles of the hand. Extreme bending of the sole (plantar
flexion) may also occur. Affected muscles may become twisted and contracted,
resulting in bone fractures in the most severe cases. Persons affected by
Stiff Man syndrome may have difficulty making sudden movements and exhibit a
waddling gait when walking.
Sleep usually suppresses frequency of contractions. SMS may be
progressive and may gradually involve additional muscles of the back and
abdomen. Stiffness may increase and patients may develop a hunched posture
(kyphosis) or a swayback (lordosis).
Causes
Newly reported studies support the theory that Stiff Man Syndrome is an
autoimmune disorder. Onset occurs gradually. Heredity factors have not been
established.
The spasms can be triggered by external factors such as sudden noise and
emotional stimuli. The attacks of stiffness may be caused by an abnormality
deep in the grey mass of the brain (basal ganglion of the Central Nervous
System).
Heredity of Stiff Man Syndrome has not been proven, but one research
paper has described 10 people affected with the syndrome in 3 generations of
one family.
Affected Population
About 70% of persons affected with Stiff Man Syndrome are male adults, about
30% are female. It is a very rare disorder.
Related Disorders
Reflex Sympathetic Dystrophy Syndrome (RSDS) is a disorder which involves
pain in nerves, skin, muscles, blood vessels, and bones of one or more
extremities. Pain in varying degrees is the primary symptom. (For more
information, choose "RSDS" as your search term in the Rare Disease Database.)
Torsion Dystonia (Dystonia Musculorum Deformans, DMD) is an
incapacitating neurological disorder which causes patients to develop
repetitive twisting and writhing movements. The movements may affect a
single muscle, a group of muscles such as those in the arms, legs, or neck,
or the entire body. Experts have lately been referring to this disorder as
"the Dystonias", indicating a group of related movement disorders rather than
a single disorder. (For more information choose "Torsion Dystonia" as your
search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Stiff Man Syndrome with diazepam may provide dramatic
improvement in many cases. This drug relaxes the muscles.
Therapies: Investigational
Drs. Pietro DeCamilli and Michele Solemana, of Yale University in New Haven,
CT, theorize that Stiff-Man Syndrome may be an autoimmune disorder in which
the body's natural defenses against invading organisms (e.g., antibodies,
lymphocytes) attack synapses in the brain and spinal cord, where a
neurotransmitter, gammaaminobutyric acid (GABA), flows between nerve ends.
The physicians are studying the use of plasma exchange combined with steroid
drugs as a treatment for Stiff Man Syndrome. Plasma exchange
(plasmapheresis) is a procedure for removing unwanted substances (toxins,
metabolic substances, and plasma parts) from the blood. Blood is removed
from the patient and blood cells are separated from plasma. The patient's
plasma is then replaced with other human blood and the blood is retransfused
into the patient. This therapy is still under investigation to analyze side
effects and effectiveness. More research is needed before plasmapheresis and
steroid drugs can be recommended as a treatment for Stiff Man Syndrome.
This disease entry is based upon medical information available through
March 1991. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Stiff Man Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Dr. Mark Hallet
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
References
MENDELIAN INHERITANCE IN MAN, 6th ed: Victor A. McKusick; Johns Hopkins
University Press, 1983. P. 495.
DICTIONARY OF MEDICAL SYNDROMES, 2nd ed: Sergio I. Magalini and Euclide
Scrascia; Lippincott, 1981. P. 558.
AUTOANTIBODIES TO GABA-ERGIC NEURONS AND PANCREATIC BETA CELLS IN STIFF
MAN SYNDROME, Michele Solimena, M.D., et al.; New Eng J Med., (May 31, 1990,
issue 322 (2)). Pp. 1555-1560.