Facioscapulohumeral muscular dystrophy
Facioscapulohumeral Muscular Dystrophy[edit | edit source]
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder characterized by progressive skeletal muscle weakness. It primarily affects the muscles of the face, shoulder blades, and upper arms.
Signs and Symptoms[edit | edit source]
FSHD symptoms typically begin in adolescence or early adulthood. Common signs include:
- Weakness in the facial muscles, leading to difficulty with facial expressions.
- Scapular winging due to weakness in the shoulder girdle muscles.
- Weakness in the upper arm muscles, affecting the ability to lift objects.
- As the disease progresses, it may also affect the abdominal muscles and lower limb muscles.
Genetics[edit | edit source]
FSHD is usually inherited in an autosomal dominant pattern. It is associated with a genetic mutation on chromosome 4, specifically a contraction of the D4Z4 repeat region. There are two main types of FSHD:
- FSHD1: Caused by a contraction of the D4Z4 repeat on chromosome 4q35.
- FSHD2: Involves mutations in the SMCHD1 gene, which affects the same region.
Diagnosis[edit | edit source]
Diagnosis of FSHD is based on clinical evaluation, family history, and genetic testing. Electromyography (EMG) and muscle biopsy may also be used to assess muscle function and structure.
Management[edit | edit source]
There is currently no cure for FSHD, but management focuses on maintaining muscle function and quality of life. Treatment options include:
- Physical therapy to improve muscle strength and flexibility.
- Occupational therapy to assist with daily activities.
- Use of orthotic devices to support weakened muscles.
- Pain management strategies, including medications and lifestyle modifications.
Research[edit | edit source]
Ongoing research aims to better understand the genetic mechanisms of FSHD and develop targeted therapies. Clinical trials are exploring potential treatments, including gene therapy and myostatin inhibitors.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- [FSHD Society](https://www.fshdsociety.org/)
- [Muscular Dystrophy Association](https://www.mda.org/)
| Types | |
|---|---|
| National/International Organizations | |
| National/International Events |
|
| Clinical trials | |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
