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spastic paraplegia 81, autosomal recessive

ORPHA: 506353

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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 spastic paraplegia 81, autosomal recessive, sourced from HPO and Orphanet clinical annotations.

Progressive spastic paraplegiaMicrocephalyModerately short statureMild intellectual disabilityNasal dysarthriaDelayed gross motor developmentProgressive spasticityLower limb hyperreflexiaAnkle clonusBabinski signCleft palateBifid uvulaHyporeflective spaces on macular OCTRetinal pigment epithelial mottlingProgressive spastic paraparesisFunctional motor deficitTetraplegia/tetraparesisDemyelinating motor neuropathySeizureCentral retinal vessel vascular tortuosityReduced visual acuityUpper motor neuron dysfunction

Classification & Codes

Orphanet Code

ORPHA:506353
spastic paraplegia 81, autosomal recessive
OrphanetORPHA:506353
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
spastic paraplegia 81, autosomal recessive | OrphanDrug