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Oculopharyngeal Muscular Dystrophy (OPMD)
Definition - One of nine types of muscular
dystrophy, a group of genetic, degenerative diseases primarily affecting
voluntary muscles.
Cause - A faulty gene for poly(A)-binding protein 1 (PABPN1), which is
suspected to lead to production of extra chemical material that causes
formation of clumps in the muscle cells.
Onset - Usually not until the 40s or 50s.
Symptoms - OPMD first causes weakness of the muscles of the eyelids and
throat; weakness of facial and limb muscles often occurs later. Swallowing
problems and difficulty keeping the eyes open are common problems.
Progression - Slow.
Inheritance - May be autosomal dominant, meaning OPMD is inherited from
one parent; or autosomal recessive, occurring when a faulty gene is inherited
from each parent.
