Spastic ataxia 5

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.

Also known as: AFG3L2 autosomal recessive spastic ataxia, AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, AFG3L2-related spastic ataxia-neuropathy syndrome, SPAX5, autosomal recessive spastic ataxia caused by mutation in AFG3L2, autosomal recessive spastic ataxia type 5, spastic ataxia type 5, early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

13 clinical trials for this condition and its sub-types.