Spastic ataxia with congenital miosis

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Spastic ataxia with congenital miosis

Synonyms: Autosomal dominant spastic ataxia type 7 | SPAX7

Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait pyramidal signs in the limbs spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.

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 Data version December 2023

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Spastic ataxia with congenital miosis?

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Advocacy Organizations

National Ataxia Foundation

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 while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

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