Facioscapulohumeral Dystrophy Treatment & Management

Updated: Mar 19, 2019
  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD  more...
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Treatment

Medical Care

See the list below:

  • No definitive therapy is available for FSHD.

  • Custom-made ankle-foot orthosis (AFO) may help patients with prominent foot drop. Sometimes AFO may worsen the gait in the presence of knee extensor weakness and these patients may benefit from floor reaction AFO (FRAFO) or newer knee-ankle-foot-orthosis (KAFO). [11]

  • Corticosteroids failed to improve muscle strength or muscle mass.

  • A pilot trial of sustained-release albuterol taken PO (16 mg/d) for 3 months increased lean body mass. A modest 12% increase in muscle strength was noted.

  • A double-blind placebo-controlled trail randomizing the patients to placebo, 8 mg albuterol twice daily, or 16 mg albuterol twice daily showed no improvement in global strength. However, albuterol improved grip strength and muscle mass. Basing on the information available, albuterol cannot be recommended.

  • In a randomized, double-blinded, cross-over trial in a mixed population of dystrophies (12 with FSHD), a creatine monohydrate value of 10 g/d demonstrated a slight improvement in overall strength.

  • Payan et al studied the effect of salbutamol on muscle strength in patients with genetically confirmed FSHD. Ambulatory patients received either salbutamol (n=56) or placebo (n=56) for 6 months. No significant change in muscle strength was shown with salbutamol compared with placebo. Results from this study do not support the routine use of salbutamol for FSHD. [12]

  • Creatine monohydrate, folic acid and methionine supplementation and myostatin inhibition (MYO-29) have been tried with no benefit.

  • Aerobic training may improve exercise performance. [13] Twelve weeks of low-intensity aerobic exercises (on a cycle ergometer at a heart rate corresponding to a work intensity of 65% of VO2 max for 35-min weekly sessions and increased to 5-times weekly in 4 wk) improved maximal oxygen uptake and work load with no signs of muscle damage.

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Surgical Care

Scapulothoracic arthrodesis may be attempted in select patients with preserved deltoid function. An improved functional range of abduction can be achieved if the scapula is fixed in 15-20° of rotation. In a series by Bunch and Siegel, 11 of 12 patients improved with this procedure. [14]

Demirhan, using multifilament cable for scapulothoracic arthrodesis, provided satisfactory function (Level IV evidence) in 13 patients. [15]

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