olivopontocerebellar atrophy

Term ID

DOID:14784

Synonyms

• Dejerine-Thomas syndrome
• Thomas' syndrome
• WADIA-SWAMI SYNDROME

Definition

A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. http://www.ninds.nih.gov/disorders/opca/opca.htm

References

• MESH:D009849
• NCI:C84947
• SNOMEDCT_US_2023_03_01:67761004
• UMLS_CUI:C0028968

Ontology

Human Disease   ( DOID:14784 )