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ENOlivopontocerebellar Atrophy
Alias:
Olivopontocerebellar Atrophies
Thomas Syndrome
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome
Spinocerebellar Ataxia Type 2
Dejerine-Thomas Syndrome
Wadia-Swami Syndrome
Thomas' Syndrome
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Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia 2, and has symptoms including cerebellar ataxia, muscle rigidity and muscle spasticity. An important gene associated with Olivopontocerebellar Atrophy is MAP1B (Microtubule Associated Protein 1B), and among its related pathways/superpathways are Neuroscience and Parkinson's disease pathway. The drugs Riluzole and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include pons and cerebellum, and related phenotypes are cleft palate and renal hypoplasia/aplasia
Related ID：
MESH：D009849
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