U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Oculopharyngodistal myopathy 2

Oculopharyngodistal myopathy 2

Summary

Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by Deng et al., 2020). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C19orf3, GIPC, GLUT1CBP, Hs.6454, IIP-1, NIP, OPDM2, RGS19IP1, SEMCAP, SYNECTIIN, SYNECTIN, TIP-2, GIPC1
    Summary: GIPC PDZ domain containing family member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.