Causes Oculopharyngeal muscular dystrophy (OPMD)

In almost all cases, the condition is inherited as an autosomal dominant disorder, which means that each child of an affected individual has a 50 percent risk of inheriting the condition.

If someone in a family with known OPMD develops likely symptoms, then a diagnostic genetic test will often be advised.

Image showing one unaffected parent and one affected parent have a 50% chance of having a child who inherits the condition

Sometimes, people with a parent with OPMD wish to know whether they are likely to develop the condition. They may wish to consider a predictive test (i.e. prior to symptoms). After suitable discussion/counselling of the advantages and disadvantages of having this knowledge, a genetic test may be offered. In this situation, however, when a family member has inherited the mutated gene, it remains impossible to predict precisely when they will develop symptoms.

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