About FSHD & The FSHD Society
August 8, 2019
Symptoms of Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is classified as a neuromuscular disease (NMD), as are all types of muscular dystrophy. Muscular dystrophies are marked by progressive skeletal muscle weakness, defects in the physical components of muscle, and the death of muscle cells and tissue. FSHD affects both males and females, with symptoms most often first getting noticeable during adolescence and early adulthood. Around 5% develop symptoms before age 10, while there are also seniors whose symptoms are so mild that they don’t realize they have FSHD.
FSHD gets its name because the muscle loss is usually noticeable across facial (facio), back (scapula), and upper arm (humeral) muscles, but other areas, such as the abdominal core, hip girdle, and legs are also commonly affected. Muscle weakness typically sets in asymmetrically, affecting only one arm or one leg, for example. Symptoms may appear years before a formal diagnosis by a doctor. These can (but don’t always) include:
- Inability to whistle;
- Inability to sip through a straw;
- Eyes that don’t close fully during sleep;
- Difficulty with sit-ups and pull-ups;
- Shoulder blades that “wing” out;
- Difficulty raising arm above shoulder height;
- Weakness in hands;
- Foot drop (foot dorsiflexion weakness);
- Weak lower abdominal muscles, “pregnant” belly;
- Loss of chest (pectoral) muscles;
- Curved spine (lordosis, kyphosis, scoliosis);
- Chronic fatigue;
- Pain, often severe (reported in 70% of patients).
Patients can also experience:
- Episodes of “malaise” or “burning pain” in muscles;
- Frequent falls, with legs just “giving out” without warning;
- Breathing problems;
- Hearing loss;
- Coats’ disease (retinal telangiectasis); rare, see Infantile FSHD.
Early on, symptoms can be overlooked or mistaken for an injury, and many doctors are unfamiliar with FSHD, so it may take a long time (9 years on average) before the condition is correctly diagnosed. Pain and fatigue can be a significant factor, often under-appreciated, in limiting daily activities. Loss of facial expression and mobility, as well as others’ lack of understanding, can be emotionally distressing and cause people to withdraw socially. Finding social support is life-changing for many, which is why the FSH Society strongly encourages patients to join a local chapter or one of the many private Facebook groups, where people can share their experiences and knowledge with one another.
FSHD Society
The FSHD Society is the world’s largest research-focused patient organization for facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent forms of muscular dystrophy. They have catalyzed major advancements and are accelerating the development of treatments and a cure to end the pain, disability, and suffering endured by one million people worldwide who live with FSHD. The FSHD Society has transformed the landscape for FSHD research, and is committed to making sure that no one faces this disease alone.
THEIR FOCUS
Accelerating research toward treatments
- Therapeutic Accelerator. We bring all of the stakeholders together to focus on removing obstacles to the success of clinical trials and regulatory approval of FSHD therapies.
- Clinical Trial Readiness Initiatives. We invest in infrastructure to position the field for clinical trials. Priorities include the Clinical Trial Research Network and programs to develop “trial ready” patient communities.
- Research Funding. We award grants to the best basic research to drive understanding of the disease, identify therapeutic targets, and develop the tools needed to translate discoveries into treatments.
- International Research Consortium (IRC) workshop. We gather the world leaders in FSHD research every year to promote rapid communication of research advances, encourage collaborations, and set research priorities for the future.
Activating and empowering our stakeholders
- Strengthening communities. We bring patients and families together to support one another and share knowledge. We train and empower volunteer leaders to become effective advocates and fundraisers in their communities.
- Knowledge is power. We publish authoritative news and brochures, and organize meetings to educate patients and families about diagnosis, managing symptoms, and clinical research. These include our national chapter program, FSHD Family Day conferences, and a webinar series.
- No one need face this disease alone. We are available 24/7 for patients and families via phone, email, and social media. We connect people to peer counselors and facilitate a thriving community of volunteer-run Facebook groups with thousands of members.
- Advocating for action. Our co-founder Daniel Perez serves on the presidential Muscular Dystrophy Coordinating Committee which meets annually to assess progress on all of the muscular dystrophies. We work closely with NIH and FDA officials, and advocacy organizations worldwide to push forward policies and legislation to help our community.
THEIR IMPACT
The FSHD Society has funded over $10 million in research initiatives that have propelled us into the era of treatment discovery and development. Our work has contributed to identifying the genetic mechanism of FSHD, development of animal models, validation of clinical trial endpoints, and early-stage drug discovery research. Other signature achievements include co-authorship of the 2001 MD CARE Act that mandated federal attention to all of the muscular dystrophies and led to the NIH-funded Wellstone Cooperative Centers for Muscular Dystrophy Research, the 2015 publication by the National Academy of Neurology of the first evidence-based FSHD care guideline, and the nationwide FSHD Clinical Trial Research Network in 2016.
For more information about the FSHD Society, please visit their website at http://www.fshsociety.org.
