[5][3] In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following:[2][6] Though the aforementioned signs/symptoms are the most common, there have been cases though rare, where the peripheral nervous system has had involvement with significant reduction of myelinated fibers [2] In homozygous cases, this muscular dystrophy is severe and starts earlier in the affected individual's life.

This gene suffers mutations that cause the PABPN1 protein to have extra alanine (amino acids), and this manifests itself physically in the symptoms of this MD.

[4] The diagnosis of oculopharyngeal muscular dystrophy can be done via two methods, a muscle biopsy or a blood draw with genetic testing for GCG trinucleotide expansions in the PABPN1 gene.

Cutting one of the throat muscles internally, an operation called cricopharyngeal myotomy, can be one way to ease symptoms in more severe cases.

[9][10] As the dysphagia becomes more severe, patients become malnourished, lose significant weight, become dehydrated and suffer from repeated incidents of aspiration pneumonia.