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.
Watch and share our “FSHD 101” video to learn more:
- Download our brochure About FSHD (Download in Spanish)
- Download our Physical Therapy and FSHD brochure
- Genetic testing
- Infantile FSHD
Clinical descriptions of symptoms
Other Medical Terms for FSHD
- Landouzy-Dejerine Muscular Dystrophy—The older name for FSHD; named after Landouzy and Dejerine, who first described the disease in 1885.
- Facioscapulohumeral Disease—The term used by Dr. George W.A.M. Padberg in 1980 to describe FSHD as a multi-system, whole body disease.
- Facio-Scapulo-Humeral Muscular Dystrophy—A less common variation of the spelling of facioscapulohumeral muscular dystrophy.
- Fascioscapuohumeral Muscular Dystrophy—A less common spelling alternative for FSHD.
- Scapulohumeral Muscular Dystrophy—A facial-sparing form of dystrophy whose genetic locus may be the same as that for FSHD. There is no demonstrable facial weakness in affected individuals.
- Coats’ Disease—Also called retinal telangiectasis, a disorder characterized by a defect of retinal vascular development that results in vessel leakage, subretinal exudation, and retinal detachment. The disorder was first reported by Coats in 1908. It is usually associated with infantile or early-onset FSHD.
- Bilateral Sensorineural Hearing Loss—A high-frequency hearing loss caused by nerve damage in both ears. Usually associated with and clinically symptomatic in infantile or early-onset FSHD.
- Hypercarbic Respiratory Insufficiency—Respiratory insufficiency caused by high levels of carbon dioxide (CO2) in the blood.