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GTR Home > Conditions/Phenotypes > Oculopharyngeal muscular dystrophy 2

Oculopharyngeal muscular dystrophy 2

Summary

Oculopharyngeal muscular dystrophy-2 (OPMD2) is an autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Most patients have onset in the first years of life, although rare patients have onset in their teens. The disorder is slowly progressive and the severity is highly variable; the most severely affected individuals lose ambulation and may require tube-feeding or noninvasive ventilation (Kim et al., 2022). For a discussion of genetic heterogeneity of OPMD, see OPMD1 (164300). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HNRNPA2, HNRNPB1, HNRPA2, HNRPA2B1, HNRPB1, IBMPFD2, OPMD2, RNPA2, SNRPB1, HNRNPA2B1
    Summary: heterogeneous nuclear ribonucleoprotein A2/B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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