Synonyms:
a.k.a. oculopharyngeal muscular dystrophy OPMD
Muscle biopsy:
Rare rimmed vacuoles. Intranuclear inclusions. Occasionally type 1 fibre predominance and occasionally ragged red fibres
Genetics:
Autosomal dominant
PABP2 gene, Chr. 14q11.2-q13, expanded trinucleotide repeat (polyalanine) GCG in PABP2 poly A binding nuclear protein 2.
Clinical features:
Ptosis, dysphagia
Later on proximal limb weakness and gait abnormalities can occur