Spastic ataxia-dysarthria due to glutaminase deficiency

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A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay progressive spastic ataxia leading to loss of independent ambulation and elevated plasma levels of glutamine. Optic atrophy tremor and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Spastic ataxia-dysarthria due to glutaminase deficiency?

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Advocacy Organizations

National Ataxia Foundation

Ataxia is a rare neurological disease affecting tens of thousands of people in the US and many thousands more around the world. It is progressive, affecting a person’s ability to walk, talk, and use fine motor skills. The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure

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Clinical Trials

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