Occulopharyngeal Muscular Dystrophy (OPMD)

What is Occulopharyngeal Muscular Dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is an inherited condition which 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 orf 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 have 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 usually show no signs or symptoms. 

Progressive ptosis (drooping of eyelids) and weakness of the extraocular muscles is the initial clinical finding. 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 center of the body, particularly muscles in the upper legs and hips. This condition progresses slowly over time and individuals may need assistance of a cane or walker, but rarely will they need a wheelchair.

Sourced from http://en.wikipedia.org/wiki/Oculopharyngeal_muscular_dystrophy 4/4/14 

Diagram showing the muscles affected in occulopharyngeal muscular dystrophy. Image sourced from http://mda.org/disease/oculopharyngeal-muscular-dystrophy/overview