Symptoms of FSHD
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 degeneration 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. A highly unusual feature of FSHD is that the muscles are not all affected in the same way at the same time. Typically, one muscle will begin to weaken while nearby muscles remain healthy. Later, a different muscle may be affected. This progresses in an unpredictable way. This is why FSHD usually shows up asymmetrically, affecting only one arm or one leg, for example. Symptoms are often mistakenly attributed to an injury, and it may take many years before a doctor makes the correct diagnosis.
Typical symptoms 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 and fingers;
- Foot drop (foot dorsiflexion weakness);
- Weak lower abdominal muscles, “pregnant” belly;
- Loss of chest (pectoral) muscles;
- Sunken breastbone (pectus excavatum);
- 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), which is rare, see Infantile FSHD;
- Mild cardiac arrhythmia (5-9% of patients).
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 FSHD Society strongly encourages patients to join a local chapter or one of the many online groups where people can share their experiences and knowledge with one another.
Watch and share our “FSHD 101” video to learn more:
An unprecedented view of FSHD
This stunning 3D visual impression of FSHD disease is based on a summation of a literature review of magnetic resonance imaging (MRI) studies of individuals with FSHD(1,2,3,4), describing which muscles in the body are reportedly affected. Image courtesy of AMRA Medical and Fulcrum Therapeutics.
- Download our brochure About FSHD (Download in Spanish)
- Download our Physical Therapy and FSHD brochure
- Genetic testing
- Infantile FSHD