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Start free with EleplanSpastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
ORPHA:431320Clinical group
Also called SPOAN and SPOAN-related disorder
What it is
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.
Key facts
- Classified as
- Clinical group
Recorded for the broader condition
- Prevalence
- 1-5 / 10 000 (Spain)Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
- Age of onset
- All agesCharcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
- Inheritance
- Autosomal recessiveAutosomal recessive complex spastic paraplegia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes reported in subtypes
Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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