Spastic ataxia 7
MONDO:0007165Spastic 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.
Also known as: SPAX7, autosomal dominant spastic ataxia type 7, spastic ataxia type 7, miosis, congenital, with spastic ataxia, spastic ataxia 7, autosomal dominant, spastic ataxia with congenital miosis
2 clinical trials for this condition and its sub-types, 1 tagged with Spastic ataxia 7 itself.
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Can a massive natural history study unlock the secrets of rare movement disorders?
Knowledge-focused Recruiting nowThis study follows thousands of people with ataxia, hereditary spastic paraplegia, and spastic ataxia, rare conditions that cause progressive problems with walking, balance, and coordination. Researchers will track how symptoms evolve using clinical exams, patient reports, digita…
Sponsor: Heidelberg University • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC
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Coordination of rare diseases at sanford
Recruiting nowThe Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research. Individuals affected by rare diseases, undiagnosed conditions, and disorders of unknown prevalence may voluntarily contribute…
Sponsor: Sanford Health
Last updated Oct 30, 2026 00:00 UTC