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Facioscapulohumeral muscular dystrophy, or FSHD, is a genetic disorder that leads to the weakening of skeletal muscles. Typically beginning in early teenage years with the loss of muscles in the face (facio), shoulders (scapula), upper arms (humerus), legs or core, FSHD can spread to any muscle. Around 20 percent will need a wheelchair by age 50. Over 70 percent experience debilitating pain and fatigue. There is no effective treatment or cure—but there is hope.
An estimated 1 in 8,000 individuals, or 870,000 people worldwide. FSHD strikes men, women, and children of all races and ethnicities. Ten percent develop symptoms before age 10. The condition is inherited and can affect many family members across generations. Some 30 percent of cases arise in families with no prior history. No individual or family is immune.
FSHD symptoms vary widely in presentation and severity, affecting individuals differently. Common symptoms included muscle weakness in the face, shoulders, and arms, as well as fatigue and pain. Understanding the range of potential symptoms can be valuable for early detection, intervention, and management.
Diagnosing FSHD typically involves a clinical evaluation, a review of medical history, and genetic testing to confirm the diagnosis. It’s important to seek evaluation from a neurologist or neuromuscular specialist experienced in diagnosing FSHD. A definitive diagnosis makes appropriate management and access to support resources possible.
Appearing with weakness in the face before age 5 and/or weakness in the shoulders and arms before age 10, early-onset FSHD presents unique challenges and considerations. The symptoms and progression may differ from adult-onset FSHD, requiring specialized care and support. Early diagnosis and intervention are key to maximizing quality of life for individuals and families affected by early-onset FSHD.
Managing FSHD requires a multifaceted approach involving symptom management, maintaining mobility, and maximizing quality of life. While there is currently no cure for FSHD, various therapies, adaptive strategies, and support services can help lessen the impact of FSHD. Early intervention and proactive management are key to addressing the challenges posed by FSHD.
Genetic testing is a valuable tool for confirming an FSHD diagnosis. Testing identifies the genetic changes associated with FSHD, helping to differentiate it from other conditions with similar symptoms. See if genetic testing is right for you and your family.
FSHD is a genetic condition with two types, FSHD1 and FSHD2. Both are caused by changes in how certain genes work, leading to muscle weakness over time.
FSHD University is your central hub for in-depth learning and skill-building related to FSHD. This comprehensive resource offers articles, videos, and expert insights on aspects of living with and managing the condition. Whether you’re seeking to understand specific symptoms, explore treatment options, or learn practical coping strategies, FSHD University has something for everyone.
Navigating the world of FSHD involves encountering unfamiliar scientific and medical terms. Our glossary provides clear and concise definitions of key words and concepts related to FSHD. Understanding these terms can help you better comprehend research, treatment options, and discussions with healthcare professionals.
The FSHD Society’s Patient Library offers a curated collection of resources like articles, videos, podcasts, and more. These resources are designed to provide you with knowledge and practical tools for navigating the FSHD journey.
