Occulopharyngeal Muscular Dystrophy (OPMD)
What is Occulopharyngeal Muscular Dystrophy?
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.
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Diagram showing the muscles affected in occulopharyngeal
muscular dystrophy. Image sourced from
THIS PAGE WAS REVIEWED 19 FEB 2016