Oculopharyngeal Muscular Dystrophy (OPMD) |
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| 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 nuclear 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.
Facts About Rare Muscular Dystrophies
- In Focus: Oculopharyngeal Muscular Dystrophy (OPMD)
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