Spastic paraplegia 50 (SPG50) is both a neurodevelopmental and a slowly progressive neurological disorder that generally presents with global developmental delay, moderate to severe intellectual disability, impaired/absent speech, small head size (microcephaly), seizures and progressive motor symptoms. Hypotonia (low-muscle tone) develops into hypertonia (high-muscle tone), resulting in spasticity of the legs that leads to non-ambulation and wheelchair reliance. Spasticity may progress to the upper extremities, leading to the partial or total loss of use of all four limbs and torso (tetraplegia).

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Currently there are no active clinical trials active for this study but we hope to have more information soon on studies being developed around the world.