SPOAN syndrome
MeSH: C563702ORPHA: 320406
Overview
gene (11q13.1), encoding kinesin light chain 2.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with SPOAN syndrome, sourced from HPO and Orphanet clinical annotations.
Optic atrophyMultiple joint contracturesDistal amyotrophyOptic disc pallorHyperhidrosisDysarthriaGait disturbancePes cavusImpaired vibration sensation in the lower limbsDelayed gross motor developmentExaggerated startle responseHyporeflexia of lower limbsScoliosisDecreased number of peripheral myelinated nerve fibersPeripheral axonal neuropathyProgressive spastic paraplegiaProximal hyperreflexiaDistal lower limb amyotrophyNystagmusAbnormality of extrapyramidal motor function
Classification & Codes
MeSH Code
C563702Orphanet Code
ORPHA:320406SPOAN syndrome
| MeSH | C563702 |
| Orphanet | ORPHA:320406 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO