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Facioscapulohumeral Muscular Dystrophy
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Autosomal dominant. This gives a fifty per cent risk for each child of someone proven to have the DNA fault. At least ten per cent of cases, and particularly ones with an early childhood presentation, arise by fresh DNA mutation. Not infrequently, this may arise initially in one of the parents, but without resulting in clinical symptoms in them, and hence mean that further children could also be at risk. However, the unaffected elder brothers or sisters of a severely affected child are very unlikely to carry the same genetic fault or pass it on to their future children.
Prenatal diagnosis
Accurate prenatal testing, performed by Chorionic Villus Sampling, usually at eleven weeks, can be offered at patient request. 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 additional relatives. Techniques to enable pre-implantation genetic diagnosis have now been developed in one or two assisted conception units Worldwide, although this is not yet available for FSHD within the UK.
How is it treated?
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