Conditions / Genetic
hereditary spastic paraplegia 23
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
Signs and symptoms
- Vitiligo
- Multiple lentigines
- Mild intellectual disability
- Babinski sign
- Hyperpigmentation in sun-exposed areas
- Premature graying of body hair
- Lower limb muscle weakness
- Spastic paraplegia
- Hyperreflexia
- Loss of ambulation
Also known as: Lison syndrome; SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia 23; spastic paraplegia with pigmentary abnormalities