CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0408/04085.txt

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$Unique_ID{BRK04085}
$Pretitle{}
$Title{Paraplegia, Hereditary Spastic}
$Subject{Paraplegia Hereditary Spastic HSP Strumpell's Familial Paraplegia
Strumpell-Lorrain Familial Spasmodic Paraplegia Spastic Spinal Familial
Paralysis Spastic Congenital Paraplegia Spasmodic Infantile Paraplegia
Familial Spastic Paraplegia FSP Familial Spastic Paraperesis from Associated
HTLV-1 Infection Werdnig-Hoffman Syndrome Arteriovenous Malformation of the
Spine Type III}
$Volume{}
$Log{}

Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.

398:
Paraplegia, Hereditary Spastic

** IMPORTANT **
It is possible the main title of the article (Hereditary Spastic
Paraplegia) is not the name you expected.  Please check the SYNONYMS listing
on the next page to find alternate names, disorder subdivisions, and related
disorders covered by this article.

Synonyms

     HSP
     Strumpell's Familial Paraplegia
     Strumpell-Lorrain Familial Spasmodic Paraplegia
     Spastic Spinal Familial Paralysis
     Spastic Congenital Paraplegia
     Spasmodic Infantile Paraplegia
     Familial Spastic Paraplegia
     FSP

Disorder Subdivision:

     Familial Spastic Paraperesis from Associated HTLV-1 Infection

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

     Werdnig-Hoffman Syndrome
     Arteriovenous Malformation of the Spine, Type III

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.

Hereditary Spastic Paraplegia is an inherited neurological disorder
characterized by slow progressive degeneration of the corticospinal and other
nerve cells in the spinal cord.  Abnormal narrowness of the passage inside of
the vertebral canal can cause compression of the spinal cord and is one
possible cause of this condition.  This may cause paralysis.  The severity of
symptoms depends upon how much the nerves are compressed and damaged.
Occasionally associated with other conditions, symptoms are usually first
noticed during early childhood although they can begin at any age.  Weakness,
stiffness and muscle spasms first develop in the legs and may later spread to
other parts of the body.

Symptoms

Initial symptoms of Hereditary Spastic Paraplegia usually include weakness,
muscle spasms, and stiffness of the legs.  Leg muscles may contract or a heel
deformity may occur making walking difficult.  Speech disturbances can also
appear.  Difficulty in swallowing, exaggeration of tendon reflexes and
general muscle weakening may develop as this disorder progresses.  Symptoms
can range from mild to severe depending upon the mode of inheritance
(dominant or recessive genes), and the degree to which the nerves are
compressed or damaged.

Hereditary Spastic Paraplegia can be associated with other conditions
such as mental retardation, deafness, premature puberty, congenital
deformities of the foot, tremors, dwarfism or delayed speech development.

Causes

In general, the abnormally narrow vertebral canal in the spinal column of
people with Hereditary Spastic Paraplegia causes various degrees of nerve
compression which leads to muscle weakness and/or paralysis.  The disorder
may be inherited through either a dominant recessive transmission.  Depending
upon which mode of transmission has caused the disorder, several subtypes of
HSP have been identified.  These subtypes can be differentiated by associated
symptoms.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.

In dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene 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 show no 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.)

Hereditary and Familial Spastic Paraplegia is usually an inherited
neurologic disorder.  However, a study has recently been concluded in a
family in Paraguay, that shows a definite transmission of Human HTLV-1 virus
(known to cause Leukemia and Lymphoma) through breast milk that results in a
condition of Spastic Paraplegia in some of the family members.  This cause of
the Spastic Paraplegia was shown to have no genetic transmission but to have
passed from mother to child through nursing.  Similar Spastic Paraparesis
types associated with HTLV-1 virus transmission have been recognized in
persons in Japan.

Affected Population

According to a study done in Italy, Hereditary Spastic Paraplegia occurs at a
rate of 1.3 cases per 100,000 population.  Researchers noted that prevalence
may be less frequent in other countries.  The disorder seems to occur more
frequently in males than females.  Symptoms are usually first noticed in
childhood, but can begin at any age.

Related Disorders

Symptoms of the following disorders may be similar to Hereditary Spastic
Paraplegia.

Werdnig-Hoffmann Disease, also known as Progressive Spinal Muscular
Atrophy, is a severe progressive neuromuscular disorder which usually begins
in infancy.  It is characterized by a generalized atrophy and weakness of the
muscles of the trunk and extremities which occur as a result of degenerative
changes in the spinal cord.  This weakness, referred to as the "amyotonia
congenital syndrome" may also be found in other neuromuscular disorders.
Tendon reflexes in Werdnig-Hoffmann are usually depressed or absent.  The
rate of progression can vary.  In general, the earlier the onset of this
disorder, the faster the progression will be.  In very rare cases, symptoms
may appear after infancy; in these cases, progression is usually slower than
in the infantile form.  (For more information on this disorder, choose
"Werdnig" as your search term in the Rare Disease Database).

Arteriovenous Malformation (AVM) of the Spine (Type III) is characterized
by a lesion consisting of tangled or coiled blood vessels in the neck.  This
type of AVM usually first occurs during childhood and is marked by back pain
associated with sensory loss and muscle weakness in the legs.  The lesion has
multiple feeding vessels with a large malformation that often appears to fill
the entire spinal canal.  These abnormalities are present at birth even
though symptoms may be delayed for many years.  AVM seems to occur in males
more often than females.  (For more information on this disorder, choose AVM
as your search term in the Rare Disease Database.)

Therapies:  Standard

Treatment for Hereditary Spastic Paraplegia includes careful supervision of
feeding when mouth, larynx and/or esophageal muscles are involved.  Physical
therapy may help maintain muscle use to avoid fixation of joints and muscle
contractures.  A foot brace may improve muscle or tendon constrictures in the
feet.  Numerous drugs are available for treatment of muscle spasms and other
symptoms.  Communication devices may be useful if a patient loses the ability
to talk.  Other treatment is symptomatic and supportive.  Genetic counseling
will be helpful to families of affected individuals.

Therapies:  Investigational

The Food and Drug Administration (FDA) has awarded an orphan drug research
grant to John H. Growdon, M.D., Massachusetts General Hospital, Boston, MA,
for studies on the experimental drug L-threonine for Hereditary Spastic
Paraplegia.

Infusion of the drug Baclofen by a surgically implanted pump is being
studied by scientists for spasticity.  Infusion of the drug directly into the
spinal space, rather than given orally, seems to provide patients with better
relief of spasticity and improves muscle tone for longer periods of time.
Less Baclofen seems to be needed when it is infused rather than given orally.

Research on Baclofen for spasticity is supported by an Orphan Drug grant
from the FDA.  More research is needed to provide evidence of the safety and
effectiveness of this type of Baclofen.

This disease entry is based upon medical information available through
September 1990.  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 Hereditary Spastic Paraplegia, please contact:

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

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

     International Tremor Foundation
     360 W. Superior St.
     Chicago, IL  60610
     [phone]

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1274 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

HEREDITARY "PURE" SPASTIC PARAPLEGIA:  A CLINICAL AND GENETIC STUDY OF 22
FAMILIES:  A.E. Harding; J Neurol Neurosurg Psychiatry (October 1981, issue
44 (10)).  Pp. 871-883.

FAMILIAL SPASTIC PARAPLEGIA, MENTAL RETARDATION, AND PRECOCIOUS PUBERTY:
M.I. Raphaelson, et al.; Arch Neurol (December 1983, issue 40(13)).  Pp. 809-
810.

THE SPINAL CANAL IN FAMILIAL SPASTIC PARAPLEGIA:  D. Vassilopoulos, et
al.; Eur Neurol (1981, issue 20(2)).  Pp. 110-114.

INTRATHECAL BACLOFEN FOR SEVERE SPASTICITY, R.D. Penn, et al.; New Eng J
Med (June 8, 1989, issue 320 (23)).  Pp. 1517-1521.

FAMILIAL SPASTIC PARAPARESIS SYNDROME ASSOCIATION WITH HTLV-1
INFECTION, Solazar-Grueso, Edgar F., et al.; N Eng. J. Med, (September 13,
1990, issue 323, (11)).  Pp. 732-737.