$Unique_ID{BRK04032}
$Pretitle{}
$Title{Myopathy, Scapuloperoneal}
$Subject{Myopathy, Scapuloperoneal Scapuloperoneal Syndrome, Myopathic Type
Myogenic Syndrome Scapuloperoneal Muscular Dystrophy Davidenkov's Syndrome}
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Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.

436:
Myopathy, Scapuloperoneal

** IMPORTANT **
It is possible the main title of the article (Scapuloperoneal Myopathy)
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

     Scapuloperoneal Syndrome, Myopathic Type
     Myogenic (Facio)-Scapulo-Peroneal Syndrome
     Scapuloperoneal Muscular Dystrophy

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

     Davidenkov's Syndrome

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.

Scapuloperoneal Myopathy is a genetic disorder characterized by a
weakness and wasting of muscles.  Symptoms are usually limited to the
shoulder blade area (scapula) and the smaller of the two leg muscle groups
below the knee (peroneal).  Facial muscles may be affected in a few cases.
The leg symptoms often appear before the shoulder muscles become weakened.
Progression rates vary between cases.  This condition can also occur in
combination with several other disorders.

Symptoms

Symptoms of Scapuloperoneal Myopathy primarily include muscle weakness and
wasting usually limited to the shoulder blade area and the legs below the
knees.  This disorder can begin in childhood or adulthood.  The progression
rate and severity can be variable, with some cases progressing more quickly
than others.

Causes

Scapuloperoneal Myopathy is thought to be inherited as an autosomal dominant
trait.  (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.)

Affected Population

Scapuloperoneal Myopathy affects males and females in equal numbers.
Symptoms may begin in childhood or during adulthood.

Related Disorders

Symptoms of the following disorders can be similar to those of
Scapuloperoneal Myopathy.  Comparisons may be useful for a differential
diagnosis:

Davidenkov's Syndrome (also known as Kaeser Syndrome or Neurogenic
Scapuloperoneal Amyotrophy) is characterized by muscle weakness and wasting
(atrophy) below the knees accompanied by foot abnormalities and an unusual
walk.  Following these symptoms, the shoulder muscles become involved.  Nerve
impulses may become measurably slowed, which does not occur in
Scapuloperoneal Myopathy.  Pain, unusual sensations in the legs, heart
problems, and muscle contractures may also occur.

Therapies:  Standard

Treatment of Scapuloperoneal Myopathy should include specified amounts of
therapeutic exercise and physical therapy alternating with periods of rest.
Genetic counseling will benefit patients and their families.  Other treatment
is symptomatic and supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through March
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 Scapuloperoneal Myopathy, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     (301) 495-4484

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

SCAPULOPERONEAL MYOPATHY:  D.H. Todman, et al.; Clin Exp Neurol (1984, issue
20).  Pp. 169-174.

SCAPULOPERONEAL SYNDROME WITH CARDIOMYOPATHY:  REPORT OF A FAMILY WITH
AUTOSOMAL DOMINANT INHERITANCE AND UNUSUAL FEATURES:  A. Chakrabarti, et al.;
J Neurol Neurosurg Psychiatry (Dec. 1981, issue 44(12)).  Pp. 1146-1152.

ADULT ONSET SCAPULOPERONEAL MYOPATHY:  P.K. Thomas, et al.; J Neurol
Neurosurg Psychiatry (Oct. 1975, issue 38(10)).  Pp. 1008-1015.