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$Unique_ID{BRK03970}
$Pretitle{}
$Title{Marinesco-Sjogren Syndrome}
$Subject{Marinesco-Sjogren Syndrome Marinesco-Garland Syndrome
Marinesco-Sjogren-Garland Syndrome Marinesco-Sjogren
Syndrome-Hypergonadotropic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy
Marinesco-Sjogren Syndrome-Neuropathy Moravcsik-Marinesco-Sjogren Syndrome
Myopathy-Marinesco-Sjogren Syndrome Freidreich's Ataxia Lowe's Syndrome
Telangiectasia Ataxia Cryptorchidism Peripheral Neuropathy Epilepsy
Hypotrichosis }
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

868:
Marinesco-Sjogren Syndrome

** IMPORTANT **
It is possible that the main title of the article (Marinesco-Sjogren
Syndrome) is not the name you expected.  Please check the SYNONYMS listing to
find the alternate name and disorder subdivisions covered by this article.

Synonyms

     Marinesco-Garland Syndrome
     Marinesco-Sjogren-Garland Syndrome
     Marinesco-Sjogren Syndrome-Hypergonadotropic Hypogonadism
     Marinesco-Sjogren Syndrome-Myopathy
     Marinesco-Sjogren Syndrome-Neuropathy
     Moravcsik-Marinesco-Sjogren Syndrome
     Myopathy-Marinesco-Sjogren Syndrome

Information on the following diseases can be found in the Related
Disorders section of this report:

     Freidreich's Ataxia
     Lowe's Syndrome
     Telangiectasia Ataxia
     Cryptorchidism
     Peripheral Neuropathy
     Epilepsy
     Hypotrichosis

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.

Marinesco-Sjogren Syndrome is a rare disorder that is inherited through
autosomal recessive genes.  The major features of this disorder are a loss of
muscle coordination as a result of disease in the cerebellum (cerebellar
ataxia), loss of clearness in the eye's lens (cataract), increased muscle
tone or tension (spasticity), and mental deficiency.

Symptoms

Marinesco-Sjogren Syndrome is a neuromuscular disorder causing a lack of
coordination of the muscles used for voluntary movement (cerebellar ataxia).
(For more information on this disorder, choose "Hereditary Ataxia" as your
search term in the Rare Disease Database).  Increased muscle tone or
spasticity also occurs.  Most patients are able to walk during childhood but
will need a wheelchair as an adult.

Other common features of Marinesco-Sjogren Syndrome are a disease of the
eye in which the lens looses it's clearness (cataract), mental retardation,
imperfect articulation of speech due to disturbance of muscle control
(dysarthria), involuntary rhythmic movement of the eyes (nystagmus), and a
condition in which the eyes are crossed (strabismus).

Some patients with Marinesco-Sjogren Syndrome may have a small head
(microcephaly), a condition in which the joint is bent and will not move due
to wasting of muscle fibers (contractures), short stature and/or
overproduction of hormones causing the ovaries in females and testes in males
not to function properly (hypergonadotropic hypogonadism).

Puberty may be delayed and skeletal deformities such as a bulging
sternum, curvature of the spine (scoliosis), short bones in the arch of the
foot (metatarsals) and fingers (metacarpals), outward twisting of the forearm
(cubitus valgus) and a defect in the hip joint making it angle out to the
side of the body (coxa valga ) may also occur.

Causes

Marinesco-Sjogren Syndrome is inherited as an autosomal recessive trait.
(Human traits, including the classic genetic diseases, are the product of the
interaction of two genes, one received from the father and one from the
mother.  In recessive disorders, the condition does not appear unless a
person inherits the same defective gene for the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will not show symptoms.  The risk
of transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

Affected Population

Marinesco-Sjogren Syndrome is a rare disorder that affects males and females
in equal numbers.  There have been approximately 100 documented cases of this
disorder in the medical literature.  It occurs more frequently in Italy,
Scandinavia and sections of Alabama in the United States.

Related Disorders

Symptoms of the following disorders can be similar to those of Marinesco-
Sjogren Syndrome.  Comparisons may be useful for a differential diagnosis:

Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized
by slow degenerative changes of the spinal chord and brain.  Dysfunction of
the central nervous system affects coordination of the muscles in the limbs.
Speech can be affected and numbness or weakness of the arms and legs may
develop.  Various transitional and overlapping forms of Friedreich's Ataxia
can occur.  This disorder is inherited through a recessive trait, but it does
not start during infancy.  (For more information on this disorder choose
"Friedreich's Ataxia" as your search term in the Rare Disease Database).

Lowe's Syndrome is a rare inherited metabolic disorder characterized by
eye abnormalities such as congenital cataracts and glaucoma, bone
malformations caused by Vitamin D Resistant Rickets, mental retardation and
impairment of kidney function.  Symptoms of this disorder become apparent in
early infancy.  This disorder affects only males and is most common in those
with fair coloring.  The muscles may be flabby, the joints unusually flexible
and there may be little or no muscle reflexes.  Other symptoms may include
bowed legs, underdeveloped testes, cataracts, excess fatty tissue and wide
ranging weight fluctuation.  (For more information on this disorder choose
"Lowe's Syndrome" as your search term in the Rare Disease Database).

Telangiectasia Ataxia, also known as Louis Bar Syndrome, is an inherited
progressive form of cerebellar ataxia that usually begins during infancy.
Symptoms of this disorder are progressive loss of coordination in the limbs,
head and eyes, and lower than normal immune response against infection.
Mental deficiency is not present initially, but may appear as the disorder
progresses.  Telangiectasia Ataxia is inherited as an autosomal recessive
trait.  (For more information on this disorder, choose "Ataxia,
Telangiectasia" as your search term in the Rare Disease Database).

The following disorders may be associated with Marinesco-Sjogren Syndrome
as secondary characteristics.  They are not necessary for a differential
diagnosis:

Hypotrichosis is a deficiency of hair.

Cryptorchidism is a failure of one or both of the testes to move down
into the scrotum.

Peripheral Neuropathy is a syndrome characterized by sensory, motor,
reflex and blood vessel symptoms.  These symptoms can occur singly or in any
combination.  The symptoms of Peripheral Neuropathy are produced by a disease
of a single nerve or several nerves in asymmetric areas of the body, or many
nerves simultaneously.  These symptoms may involve sensory, motor, reflex, or
blood vessel function.  Lesions, usually degenerative and rarely accompanied
by signs of inflammation, may occur in the nerve roots or peripheral nerves.
(For more information on this disorder choose "Peripheral Neuropathy" as your
search term in the Rare Disease Database).

Epilepsy is a central nervous system disorder that is characterized by a
sudden, aimless, uncontrollable discharge of electrical energy in the brain.
This discharge is sometimes preceded by a strange feeling (aura) and is
characterized by a convulsion and/or loss of consciousness.  The disease is
not usually life threatening and those affected can lead a full and active
life if medication controls their symptoms.  (For more information on this
disorder choose "Epilepsy" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Marinesco-Sjogren's Syndrome is symptomatic and supportive.

Surgery is used to remove some types of cataracts.  The lens is removed
and may be replaced with an implant.  Contact lenses may help improve
sharpness of vision.  During recent years lasers have been used increasingly
to remove cataracts.

Scoliosis and other orthopedic defects may be helped with surgery and/or
orthopedic appliances.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

After removal of the affected lens in children with congenital cataracts an
intraocular lens (IOL) has been implanted.  If technically feasible, the IOL
is implanted in the lens capsule.  More research is needed before this
implantation can be used more generally to preserve vision and reduce double
vision.

This disease entry is based upon medical information available through
April 1992.  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 Marinesco-Sjogren Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Ataxia Foundation
     500 Twelve Oaks Center
     15500 Wayzata Blvd.
     Wayzata, MN  55390
     [phone]

     PACK (Parents of Cataract Kids)
     179 Hunters Lane
     Devon, PA  1933
     [phone]
     [phone]

     Association for Retarded Citizens of the U.S.
     P.O. Box 6109
     Arlington, TX  76005
     [phone]
     [phone]

     National Scoliosis Foundation, Inc.
     72 Mount Auburn St.
     Watertown, MA  02172
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 1309.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1105-6.

THE MARINESCO-SJOGREN SYNDROME EXAMINED BY COMPUTED TOMOGRAPHY, MAGNETIC
RESONANCE, AND 18F-2-DEOXY-D-GLUCOSE AND POSITRON EMISSION TOMOGRAPHY:  M.B.
Bromberg, et al.:  Arch Neurol (November 1990, issue 47(11)).  Pp.  1239-42.