Conditions / Nervous system
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
info · Nervous system
A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35.
Signs and symptoms
- Dysarthria
- Ataxia
- Cognitive impairment
- Hypergonadotropic hypogonadism
- Vertical supranuclear gaze palsy
- Mental deterioration
- Dystonia
- Dysmetria
- Gait disturbance
- Cerebellar atrophy