Conditions / Nervous system
SPOAN syndrome
info · Nervous system · ICD-10: G11.4
A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
Signs and symptoms
- Exaggerated startle response
- Optic atrophy
- Distal amyotrophy
- Dysarthria
- Proximal hyperreflexia
- Nystagmus
- Hyperhidrosis
- Scoliosis
- Kyphosis
- Absent Achilles reflex
Also known as: spastic paraplegia, optic atropy, and neuropathy; spastic paraplegia, optic atropy, and neuropathy syndrome