Facio Scapulo Humeral MD Explained
At what age does it usually start?
his is dependent on the extent of the DNA rearrangement. In large families with several affected members, an affected person usually first becomes aware of muscle weakness in teenage years or early adulthood, when he or she experiences difficulty in raising one or both arms, or notices prominent shoulder blades or wasting of upper arm muscles.
In the more severe cases, which are often the first ones in a family and arising from a new mutation giving a small residual DNA repeat length, impaired movement of facial muscles, particularly around the mouth, can be evident by early childhood, followed by the shoulder girdle and upper arm weakness. In these children progressive weakness of the legs can start to develop by teenage years and lead to the need for a wheelchair.
By contrast, in the mildest families, with the largest residual DNA repeat lengths, people inheriting the condition may remain unaware of symptoms until even late in adulthood.
If I have no symptoms can I still carry the gene and pass it on to my children?
f the person with FSHD has been affected from childhood, it is very unlikely that an adult relative (say a brother or sister) who is unaware of any symptoms, could ‘carry' the faulty gene or pass on FSHD to their children. The parents of the affected child are an exception, as they could be ‘carrying' the mutation but in only some of their cells, and hence pass this on to more than one child.
For people from families where several relatives or a parent have FSHD, one cannot give the same level of reassurance except following DNA testing. In these situations, many people ‘at risk' may be affected only mildly, and are unaware of the abnormal signs that are present. Although some degree of reassurance may be possible if examined by a doctor well familiar with the condition, we now know that up to one-third of adult women carrying the milder mutations for FSHD, and a probably much smaller proportion of men, may not be showing any definite sign of the condition.
Therefore, the answer to this question can only be given reliably following DNA testing.
If one of my children is affected, but another seems clear, is he or she likely to have ‘escaped' inheriting FSHD?
f the apparently unaffected child is several years beyond the age at which the affected one first presented with symptoms, it becomes very likely that they have not inherited the condition. This is particularly so if the affected child is the first-presenting person in the family, and if DNA testing has shown that their condition has arisen from a new DNA rearrangement (a new mutation) not present in a DNA sample from either parent. However, if either parent is clinically affected or carries the mutation, only DNA testing can give reassurance. If a child has no signs of FSHD, requests for DNA testing would normally be refused until the child is of an age to choose this for themselves.
Can I avoid passing the faulty gene on to my children?
ccurate pre-natal testing, performed by chorion villus biopsy (CVS), usually at 11 weeks gestation, is now available to most couples who would wish this, and whose offspring would be at risk of FSHD. It is essential that genetic (DNA) tests be performed first on blood samples from the affected parent or child to define the DNA mutation in that family. Blood samples would usually be required from both parents, and in some cases from other affected relatives. The CVS procedure is now widely available, although the tissue sample obtained would be forwarded to one of a few specialist genetic laboratories. Couples considering this should consult with their local genetic service that would advise accordingly, preferably prior to becoming pregnant.
Can I improve muscle strength?
here are no cures or specific drug treatments. Regular gentle exercise (especially swimming) is beneficial. It is essential to keep your weight down (through diet if necessary) in order to reduce stress on already weakened muscles.
If exercises are undertaken to increase muscle strength any build-up should be done gradually.
Can surgery help?
he scapular muscles, which attach the shoulder blades to the chest, are often very weak and this leads to difficulty in lifting the arms. The operation of scapular fixation (fixing the shoulder blades to the ribs at the back) has enabled some people to regain more use of their arms. Because prolonged immobilisation of limbs could increase the weakness of disused muscles, combined assessment from a neurologist and an orthopaedic surgeon prior to operation is advised. For people who have troublesome inflammation of the eyes as a result of them if they are remaining open at night, surgery to bring the eyelids closer can be offered if artificial tears alone are insufficient.
Are anaesthetics a risk?
here is no known risk, but you should be sure that the anaesthetist is aware of your diagnosis prior to operation.
Should I declare it on insurance forms?
Once the diagnosis has been made you have an obligation to declare it when requested. As there is no significant effect on life span, you should ask your doctor for a letter of support if you run into problems. When applying for a driving licence, especially HGV or PSV, this may be issued for a limited duration, with renewal subject to satisfactory medical examination.
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