Conditions / Genetic
hereditary spastic paraplegia 6
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
Signs and symptoms
- Clonus
- Impaired vibration sensation in the lower limbs
- Urinary urgency
- Pes cavus
- Babinski sign
- Seizure
- Urinary incontinence
- Spastic gait
- Lower limb spasticity
- Lower limb muscle weakness
Also known as: FSP3; SPG6; autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; autosomal dominant spastic paraplegia type 6