Facioscapulohumeral muscular dystrophy (FSHD) is broadly characterized as a neuromuscular disease (NMD), as are all types of muscular dystrophy. Muscular dystrophies are marked by progressive skeletal muscle weakness, defects in the biochemical, physical, and structural components of muscle, and the death of muscle cells and tissue. FSHD gets its name because the progressive loss of skeletal muscle is usually noticeable across facial (facio), back (scapula), and upper arm (humeral) muscles. The abdominal core, hip girdle, and legs are also affected in many patients. Muscle weakness often sets in asymmetrically, affecting only one arm or one leg, for example, and as a result may be mistakenly attributed to strain or a sports injury. Symptoms may manifest early, sometimes years before a formal diagnosis. 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 such exercises as sit-ups and pull-ups;
- Shoulder blades that “wing” out;
- Difficulty raising arm above shoulder height;
- Foot drop (foot dorsiflexion weakness);
- Weak lower abdominal muscles, protuberant abdomen;
- Atrophy of chest (pectoral) muscles;
- Curved spine (lordosis).
Patients can also experience:
- Episodes of “malaise” or “burning pain” in muscles;
- Severe pain from changes in posture and strain on remaining muscles;
- Chronic fatigue;
- Respiratory insufficiency;
- Hearing loss;
- Coats’ disease (retinal telangiectasis); rare, see Infantile FSHD.
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- 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.