This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Oculopharyngeal muscular dystrophy

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Oculopharyngeal muscular dystrophy is an autosomal dominant condition usually evident in the fifth decade of life.

It is characterised by ptosis with progressive involvement of extraocular muscles until total paralysis of eye movements results. The pupillary reactions are spared.

Flaccid dysphagia, flaccid dysarthria, facial weakness and proximal limb weakness are late features.

Investigations reveal an elevated creatine phosphokinase - up to five times - and characteristic muscle biopsy - "rimmed" vacuoles in a proportion of muscle fibres.

Treatment is supportive. Dysphagia may require nasogastric feeding. Death usually results from infection.

It must be distinguished from myasthenia gravis and mitochondrial myopathy in which ptosis is also a distinctive feature.


Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page