Spastic paraplegia, optic atropy, and neuropathy
MONDO:0012297A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.
Also known as: SPOAN, SPOAN syndrome, spastic paraplegia-optic atrophy-neuropathy syndrome
5 clinical trials for this condition and its sub-types, 3 tagged with Spastic paraplegia, optic atropy, and neuropathy 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