Conditions / Genetic
hereditary spastic paraplegia 91
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Signs and symptoms
- Spastic gait
- Nystagmus
- Paroxysmal dyskinesia
- Scoliosis
- Gait disturbance
- Babinski sign
- Joint hypermobility
- Impaired vibratory sensation
- Optic neuropathy
- Myoclonus
Also known as: autosomal dominant spastic paraplegia 91; autosomal dominant spastic paraplegia 91 with or without cerebellar ataxia