Symptoms of facioscapulohumeral muscular dystrophy

Website-ScapularFixation

A common first sign of FSHD, asymptomatic scapular fixator causing scapular winging and difficulty reaching above the shoulder level. Note asymmetry.

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 hip girdle and legs can also be 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;
  • 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.

Additional information:

Clinical descriptions of symptoms

 “Generally, FSHD displays a characteristic gradual spread of muscle involvement, starting in the face and slowly progressing to the shoulder and upper-arm musculature and to the abdominal and foot-extensor muscles” (1). “Foot dorsiflexion weakness leading to footdrop is an early manifestation of FSHD and one amenable to the use of molded ankle-foot orthoses (AFO)” (2). “The most common initial symptom is difficulty reaching above shoulder level. Less common presentations include foot drop (such patients, however, almost invariably have compensated), asymptomatic scapular fixator, and facial weakness on examination. Truncal weakness is an early and frequent manifestation that is easily overlooked during examination of these patients. Weak abdominal muscles result in a protuberant abdomen and contribute to the lumbar lordosis. Lower abdominal muscles are weaker than the upper abdominal muscles, causing a strikingly positive Beevor’s sign, a physical finding fairly specific for FSHD” (2). “Associated non-skeletal muscle manifestations include high-frequency hearing loss as well as retinal telangiectasias, both of which are rarely symptomatic” (2). “Approximately half of the patients present with subclinical high-tone hearing loss and retinovasculopathy” (1). Respiratory involvement in FSHD is not typical but can be seen, especially in patients with severe FSHD. Symptoms and signs of respiratory insufficiency should be sought during routine clinic visits in patients with severe FSHD, and regular monitoring of respiratory function instituted. “Symptomatic respiratory insufficiency can be initially managed with nighttime noninvasive pressure support (BiPAP) but may in severe cases require the use of a ventilator” (2). 1. van der Maarel SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2005 Mar; 76(3):375-86. Review. Click to read Abstract 2. Tawil R, van der Maarel SM. “Facioscapulohumeral muscular dystrophy.” Muscle Nerve. 2006 Jul; 34(1):1-15. Review. Click to read Abstract

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.