Oculopharyngeal Muscular Dystrophy (OPMD)

What is Oculopharyngeal Muscular Dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is an inherited condition that appears in early middle age (fifth decade). The most common inheritance of OPMD is autosomal dominant, which means only one copy of the defective gene needs to be present in each cell for the condition to be present. Children of an affected parent have a 50% chance of inheriting the defective gene and therefore having the condition as well. Generally, autosomal dominant inheritance has a strong family tie. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that two copies of the defective gene need to be present in each cell; both parents need to be carriers (one functional copy and one defective copy), and they usually show no signs or symptoms.

Progressive ptosis (drooping of eyelids) and weakness of the extraocular muscles are the initial clinical findings. Dysphagia (difficulty swallowing) begins with food, but as the condition worsens, liquids become difficult to swallow as well. Atrophy (weakness and wasting of the tongue) can be present. Problems taking in food can lead to malnutrition. Proximal limb weakness develops later on in the disease, and usually occurs near the centre of the body, particularly in the muscles in the upper legs and hips. This condition progresses slowly over time, and individuals may need the assistance of a cane or walker, but rarely will they need a wheelchair.

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