Oculopharyngeal Dystrophy OPMD

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

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