FacioScapuloHumeral (FSH or FSHD) Muscular Dystrophy & Resources For People With Disabilities

My name is John, and this is my personal web page with information about Facioscapulohumeral Muscular Dystrophy (FSH or FSHD). Plus, information about disability and medical products, including resources and services for men, women and children with disabilities. I hope this site will be useful to you, and please feel free to add this site to your favorites.

If you have any questions or would like to contact me personally please feel free to email me anytime at FSHMD@mysuccess.net.

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Included below is some basic information about Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as Landouzy-Dejerine)

Definition:
A disorder characterized by progressive muscle weakness and loss of muscle tissue, primarily affecting the face, shoulder, and upper arm muscles

Causes, incidence, and risk factors:
Facioscapulohumeral muscular dystrophy is a type of muscular dystrophy that affects the upper body, unlike some other types that affect primarily the lower body (including Duchenne's muscular dystrophy and Becker's muscular dystrophy). It is an inherited disorder with a autosomal dominant inheritance pattern (the disorder appears in men and women and may develop if either parent carries the gene for the disorder).

This disorder is extremely variable in the extent and severity of the symptoms and in the age when symptoms appear. Symptoms often do not appear until ages 10 to 26, but it is not uncommon for symptoms to appear much later. In some cases, symptoms never develop.

Symptoms are usually mild and very slowly progressive. Facial muscle weakness is common. Shoulder muscle weakness causes deformities such as scapular winging and sloping shoulders. There is difficulty raising the arms because of shoulder and arm muscle weakness. Weakness of the lower legs is possible as the disorder progresses and can be severe enough to interfere with walking. Other body systems are usually not affected, and intellectual function is normal.

Facioscapulohumeral muscular dystrophy affects approximately 5 out of 100,000 people. It affects men and women equally.

Prevention:
Genetic counseling may be advised if there is a family history of facioscapulohumeral muscular dystrophy.

Symptoms:

• facial muscle weakness

• eyelid drooping
• inability to whistle
• decreased facial expression
• depressed or angry facial expression

• shoulder weakness

• difficulty working with the arms raised
• sloping shoulders
• pronounced shoulder blades (scapular winging)

Signs and tests:
An examination indicates weakness of the facial and shoulder muscles. Involvement of other body symptoms (such as the lungs and heart) is rare. High blood pressure (hypertension) may occur but is usually mild.

• A serum creatine kinase may be normal or slightly elevated.
• An EMG (electromyography) may be nonspecific or may have mixed features of muscle and nerve involvement.
• A muscle biopsy may be nonspecific, or may confirm the diagnosis.

Treatment:
There is no known cure for facioscapulohumeral muscular dystrophy. Treatment is aimed at control of the symptoms to maximize the quality of life. Activity is encouraged. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength.

Genetic counseling may be advised before having children.

Expectations (prognosis):
Progressive disability occurs very slowly with facioscapulohumeral muscular dystrophy. The patient's disability is often minor and life span is usually not affected.

Complications:

• permanent, progressive disability

• decreased mobility
• decreased ability to care for self

• deformities

Calling your health care provider:
Call for an appointment with your health care provider if symptoms indicate facioscapulohumeral muscular dystrophy may be present.

Call for an appointment with your health care provider if you are planning a family and facioscapulohumeral muscular dystrophy has been diagnosed in yourself, your spouse, or family members.

Facio-Scapulo-Humeral (FSH) Society, Inc.
3 Westwood Road
Lexington, MA 02173
(781) 860-0501
Fax: (781) 860-0599
Email: carol.perez@fshsociety.org
Website: http://www.fshsociety.org/

FSHD Bulletin Board and Chat - http://webboard.novatech.net:8080/~fshboard/

This is a voluntary not-for-profit organization created to address issues and needs specifically related to Facio-Scapulo-Humeral Muscular Dystrophy (FSHD), a rare inherited neuromuscular disorder. Established in 1989, the Facio-Scapulo-Humeral Society is dedicated to encouraging and promoting ongoing scientific and clinical research and development into the nature of Facio-Scapulo-Humeral Syndrome through solicitation of grants and contributions from private foundations, the pharmaceutical industry, and others.

The Society also seeks to develop educational programs aimed at the medical community, government bodies, and the public. The Society accumulates and disseminates timely information about FSHD and actively cooperates with related organizations to foster communication among all interested parties. In addition, Facio-Scapulo-Humeral Society promotes professional education; provides appropriate referrals including to support groups; and promotes patient advocacy and legislation beneficial to individuals with FSHD. The Society offers a variety of educational and support materials including brochures, fact sheets, and a newsletter.

Muscular Dystrophy Association (MDA)
3300 E. Sunrise Drive
Tucson, Arizona 85718
(520) 529-2000
Fax: (520) 529-5300
Email: mda@mdausa.org
Website: http://www.mdausa.org/

FSH - MD Online Fact Sheet:
http://www.mda.org.au/index.html

Source for Information and News about FSHD:
http://mdausa.org/disease/fshd.html

MDA fights forty neuromuscular diseases through a worldwide research effort, a nationwide program of medical services, and professional and public health education. MDA's Medical Advisory and Scientific Advisory committees review projects that will increase knowledge in the neuromuscular field and may lead to treatments or cures for muscular dystrophy and related disorders. MDA's Task force studies all aspects of genetic defects implicated directly or indirectly in neuromuscular diseases. Their patient services program provides comprehensive medical services to children and adults with neuromuscular diseases.

MDA clinics provide diagnosis and follow-up care from specialists. Through local chapters MDA patients receive many other direct services, including assistance with purchase and repair of wheelchairs, recreation at summer camps, and selected transportation assistance. MDA publishes and distributes a wide variety of print and audiovisual materials to promote public understanding and provide information to parents and caregivers of MDA patients. They offer a quarterly newsletter, MDA Reports, a publication "Quest", and a booklet for siblings,"Hey! I'm Here Too!" along with other brochures and fact sheets.

MDA's home page allows users access to MDA publications, including pamphlets, special news updates, and articles from previous issues of QUEST, MDA's news magazine. Families with major neuromuscular diseases such as Amyotrophic Lateral Sclerosis (ALS), Charcot-Marie-Tooth (CMT), Limb-girdle Muscular Dystrophy (LGMD) and Spinal Muscular Atrophy (SMA) among others can find announcements of the latest research advances, a special ASK THE EXPERTS feature where disease related questions are answered by MDA researchers and clinic physicians, locate nearby MDA clinics, read up on specific neuromuscular diseases (and their symptoms), learn about MDA's program of services, find helpful resources and much more.

101 Hints to "Help-with-Ease" for Patients with Neuromuscular Disease - http://www.mdausa.org/publications/101hints/

This little booklet was written to assist patients with neuromuscular disease in handling their tasks of daily living. All the hints it contains have been field-tested and proven useful. Most were suggested by patients or their families.

Quest Magazine - http://www.mdausa.org/publications/Quest/index.html

This bimonthly national magazine (circulation 110,000) contains news and features on all aspects of living with a neuromuscular disease, along with updates on the latest findings in the field. Here, you'll find featured articles from the current issue as well as a library of Quest back issues. You may also browse a list of stories by topic, or narrow your selections to stories pertaining to science, health and research.

Subscriptions can be ordered using their online form.