Facioscapulohumeral Dystrophy Clinical Presentation

Updated: Mar 19, 2019
  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD  more...
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  • Initial weakness is seen in facial muscles, starting in the orbicularis oculi, orbicularis oris, and zygomaticus.

    • Patients may have difficulty with labial sounds, whistling, or drinking through a straw.

    • Weakness may be asymmetric.

    • Extraocular and pharyngeal muscles are spared.

  • Shoulder weakness is the presenting symptom in more than 82% of patients with symptoms.

    • Scapular fixation is weak from the onset. Winging of the scapula is the most characteristic sign. The scapula is placed more laterally than normal. It moves upwards in shoulder abduction.

    • The deltoid muscle usually is spared, and shoulder abduction weakness is predominantly due to weak scapula fixation.

    • If the scapula is stabilized manually against the chest wall, the patient may experience improved movement. Upward slope of the anterior axillary fold results from weakness of the pectoralis major.

  • Truncal weakness is early. Lower abdominal muscles are weaker than upper abdominal muscles, resulting in the Beevor sign, a physical finding very specific for FSHD. The Beevor sign is the upward movement of the umbilicus toward the head when flexing the neck.

  • Weakness of foot dorsiflexion follows shoulder weakness.

    • Tibialis anterior muscle weakness is highly characteristic, whereas posterior muscles of the leg are spared.

    • In a few patients, a foot-drop gait is the presenting complaint. In more than 50% of patients, the pelvic girdle muscles are never involved.

  • Atypical phenotypes in patients with FSHD

    • Scapulohumeral dystrophy (SHD) or facial-sparing SHD with or without myalgia

    • FSHD with chronic progressive external ophthalmoplegia (CPEO)

    • Limb-girdle muscular dystrophy syndrome

    • Distal myopathy

    • Asymmetric brachial weakness

  • Extramuscular manifestations are as follows:

    • High-frequency hearing loss in almost 75%

    • Retinal telangiectasias in about 60%

    • Atrial arrhythmias in 5%

    • Restrictive respiratory disease in 1%

    • Mental retardation

    • Seizures

    • Sleep-disordered breathing (SDB) is very common in FSHD. Obstructive sleep apnea, REM-related oxygen desaturation, or mixed pattern were observed in 39% of FSHD patients. SDB is not related to severity of the disease. [8]