Spastic paraplegia-glaucoma-intellectual disability syndrome
MONDO:0010049Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
Also known as: spastic paresis glaucoma intellectual disability, spastic paresis glaucoma mental retardation, spastic paresis, glaucoma, and intellectual disability, spastic paresis, glaucoma, and mental retardation
2 clinical trials for this condition and its sub-types, 0 tagged with Spastic paraplegia-glaucoma-intellectual disability syndrome itself.
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Can ultrasound make botox injections more precise for stiff muscles?
Disease control Recruiting nowThis trial tests whether using ultrasound to guide botulinum toxin injections into spastic leg muscles works better than the standard method of relying on touch and anatomical landmarks. Researchers will give 40 adults with spastic paraplegia two rounds of injections, one with ea…
Phase 4 • Sponsor: Universidade Federal Fluminense • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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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