4. Does FSHD Affect Other Parts of the Body?

In the vast majority of individuals with FSHD, the symptoms are restricted to weakness of limb and trunk muscles. However, other parts of the body can be involved. This involvement is usually mild but in rare cases can cause severe disability:

  • Heart: Individuals with FSHD have a higher incidence of cardiac arrhythmias due problems with the atria (upper chamber of the heart). This can result in episodes of rapid heart beat or palpitations. These types of arrhythmias are not life threatening and require treatment in less than 5% of individuals with FSHD.
  • Difficulty Breathing: The breathing muscles are not involved in most patients with FSHD but it can be a problem in severely affected individuals, especially those who are confined to a wheelchair. The symptoms of breathing difficulty can be subtle and are most evident initially when a person is lying flat. The need to sleep on more than a couple of pillows, non-restful sleep, and chronic morning headaches may be indications of reduced lung capacity. A baseline measurement of lung capacity is important to obtain in individuals with severe disease and it should be repeated yearly. Lung capacity measurement should be obtained before surgery in all FSHD patients to alert the physicians about the possible need for post-operative respiratory support and the need to avoid sedatives that will depress breathing. In all, about 1% of patients with FSHD will have breathing problems that will require respiratory assistance.
  • Retina: When careful studies of the retinal blood vessels are done in individuals with FSHD, about 60% will show minor abnormalities of the blood vessels. These minor abnormalities will not result in any problems in the vast majority of patients with FSHD. However, rarely, these retinal vessels become leaky and can cause bleeding and retinal detachment, a condition known as Coat’s disease. If there are significant abnormalities in the blood vessels, treatment with laser therapy will prevent the development of Coat’s disease and its associated loss of vision. It is now clear that this severe complication happens only in infantile onset FSHD or in patients with very large deletions (see below under section 7). Based on this information, patients with infantile onset FSHD or patients with large deletions should get a thorough dilated eye examination by an ophthalmologist. If abnormalities of the blood vessels are noted, they need to be followed closely.
  • Hearing loss: High frequency hearing loss can be seen in FSHD. Like other non-muscular complications in FSHD, this is usually mild and requires no intervention except in a few patients where it is severe enough to necessitate the use of a hearing aid. Recognizing hearing loss is crucial in infantile onset FSHD as untreated hearing loss in a child can lead to delay in speech and language development. As with the retinal problems, patients with infantile-onset FSHD and those with large deletions are more susceptible to getting hearing loss that is severe enough to require a hearing aid.

    1. What is FSHD?
    2. How is FSHD inherited?
    3. What are the Symptoms of FSHD?
    4. Does FSHD affect other parts of the body?
    5. Is infantile FSHD different from other forms of FSHD?
    6. What can someone with FSHD Expect as they age?
    7. How is FSHD Diagnosed?
    8. What causes FSHD?
    9. Are there any treatments for FSHD?

For more information, please contact the Fields Center FieldsCenter@urmc.rochester.edu