Our story

What is FSHD?
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.

Who is affected?
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.

What is the FSH Society?
The world’s largest grassroots network of FSHD patients, families and research activists, the FSH Society helps people through education and outreach; funds scientific and medical research; and advocates for increased government and industry investment in FSHD.

We have transformed the landscape
Patients once had no place to turn for help. There was virtually no research on FSHD. The FSH Society raised funds that launched many areas of FSHD research. We helped to write the MD-CARE Act (2001), which led to the creation of the NIH-funded Wellstone Centers for FSHD research. The Society has invested over $6 million in research, contributing to the discovery of the genetic cause of FSHD and igniting interest by more than a dozen biotech companies in developing treatments.

We are taking action to:

  • Identify biological mechanisms of the disease.
  • Build critical infrastructure to accelerate research.
  • Improve patient care nationwide.
  • Pave the way to clinical trials.

Our Promise
As long as we are here, no patient need ever face this disease alone. And with generous donations from patients, families, friends, major donors, and sponsors, the FSH Society will keep working to accelerate research leading to treatments.

We have earned your trust. The FSH Society earned eight consecutive 4-star award from Charity Navigator, placing us among the highest-performing U.S. charities.

You can help! Visit www.fshsociety.org or call us at 781-301-6649 to:

Your donation is the most powerful investment you will ever make to advance medical research.

“We believe there will be a cure one day for our son Noah, and we know the FSH Society will play a huge role in finding it.”—Kristen and Dan Linsky

FSH Society is a tax-exempt 501(c)(3) organization, tax I.D. 52-1762747.  A copy of the Society’s exemption letter is available on request. 

Notable FSH Society-Funded Research

Many of the seed grants and starter projects have generated data and insights that help with screening for FSHD, improve genetic testing, and ultimately improve the speed and accuracy of diagnosis.

FSH Society seed grants launched the international effort that culminated in the discovery of the complex genetic mechanism by which D4Z4 contractions on chromosome 4 result in expression of the DUX4 gene in FSHD Type 1. FSH Society grants also contributed to the discovery of SMCHD1’s role in FSHD Type 2 and as a disease modifier in FSHD Type 1.

In the area of therapy/treatment, we launched two groundbreaking nutritional research projects covering creatine, MRI/MRS, and better biomarkers and techniques to measure clinical trial outcomes and endpoints.

Respiratory insufficiency is a serious complication that can happen with FSHD. The FSH Society is assembling a knowledge base and guidelines, and disseminating information on respiratory insufficiency and care in FSHD.

The Society helped advise, network, and consult with clinicians, patients, and Wyeth Pharmaceuticals to bring about the clinical trial of the myostatin inhibitor myo-029.

The Society met with Acceleron Pharma to make the case for FSHD as a candidate disease for their myostatin inhibitor ace-031.

In 2014, the FSH Society worked with aTyr Pharma to recruit volunteers for biomarker studies in association with aTyr’s launch of a Phase I clinical trial of a novel therapeutic compound for FSHD.

Also see Breaking News for notable FSH Society-funded research.

Read in Japanese, Chinese (traditional), Chinese (simplified), and Korean. We are deeply grateful to Dr. Kohei Hamanaka and his laboratory for providing translations.