Conditions / Genetic
spastic ataxia 3
info ยท Genetic
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
Signs and symptoms
- Ataxia
- Spasticity
- Hyperreflexia
- Cerebellar vermis atrophy
- Dysarthria
- Cerebellar atrophy
- Dysmetria
- Neurogenic bladder
- Spastic ataxia
- Gait ataxia