Facio Scapulo Humeral MD Explained
How severe or mild is it?
The degree of weakness or disability can vary quite widely between different affected members in a family, but can show even greater variation between people in different families. For some, it can result in weakness not only of facial muscles and shoulders/upper arms, but also of additional combinations from the neck, forearms, wrists, fingers, hips, legs, ankles and the back muscles. Around 10-20% of people eventually require a wheelchair, but by contrast, up to one third remain unaware of symptoms at least into old age, although may well have subtle detectable clinical signs. The majority of people come between these two extremes. The average severity of presentation in a family, or in a single case, seems to correlate with the smallness of the number of copies of the DNA repeat sequence which remain (ie. the fewer copies left, the greater is the severity).
In general, the most severely affected people tend to be the ones who have the altered genetic instruction for the first time in the family, and where the symptoms of weakness are evident from early childhood.
Are men and women affected equally?
We now know that, on average, men do tend to show more weakness and from a slightly earlier age than women (see also question 16). The reason for this is not yet clear. Within large families, and therefore excluding the most severe cases, women are more likely to be less severely affected and so could be unaware that they have inherited the condition.
What are the mildest signs that someone is affected?
Within the context of a family history of FSHD, weakness of facial muscles can be suspected if the eyes remain slightly open when asleep, particularly in young children, or if the eyelids cannot be screwed tightly enough to bury the eyelashes. Difficulties in pursing the lips to whistle or to play a woodwind or brass instrument, or in blowing up balloons, are also suggestive of the condition. During the teenage years or in adulthood, excessive aching around the shoulders, rounded shoulders and thin upper arms may be the first presenting signs or symptoms.
Does FSHD affect lifespan?
Generally speaking, lifespan is not affected, except perhaps in the most severe cases with greatly impaired mobility and consequent greater risk of chest infections. There are some recent reports suggesting an increased association with heart rhythm disorders, but only in a few cases, and these are responsive to appropriate medication. Because of these reports, adults with FSHD would be advised to see their GP (or hospital doctor) every few years for a simple heart check.
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