What is the prognosis of facioscapulohumeral dystrophy (FSHD)?

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

See the list below:

  • Size of deletion affects disease severity and thus prognosis. Ricci studied 122 Italian families affected by FSHD and 230 healthy control subjects. An Eco RI fragment shorter than 30 kb that was resistant to Bln I restriction was found in 114 of 122 families (93%) with FSHD. Fifteen percent of the control group showed Eco RI fragments smaller than 30 kb that were Bln I sensitive, suggesting that these were 10 qter alleles. Prognosis varied with the length of the fragment size and the remaining Kpn I units. [17] The probabilities of developing the severe form of the disease were as follows:

    • 100% with very short segment length of 10-13 kb (1-2 Knp I repeats left)

    • 54% in patients with fragment length of 16-20 kb (3-4 Knp I repeats left)

    • 19% in patients with fragment length greater than 21 kb (more than 4 Knp I repeats left)

  • Age of onset is variable. The disease tends to progress from the face downwards. Asymmetry and selective muscle group involvement distinguish FSHD from other muscular dystrophies. Many authors describe stepwise deterioration with prolonged periods of apparent arrest. Extraocular muscles, bulbar muscles, deltoids, and respiratory muscles usually are spared. Ventilatory impairment is seen in fewer than 10% of patients.

  • Approximately 20% of patients may require wheelchair assistance.

  • Life expectancy is normal in most patients.


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