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hereditary spastic paraplegia 53

ORPHA: 319199

Contents

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

Overview

gene (8p22) encoding vacuolar protein sorting-associated protein 37A

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 hereditary spastic paraplegia 53, sourced from HPO and Orphanet clinical annotations.

ClonusUpper limb hyperreflexiaDelayed speech and language developmentPectus carinatumJoint hypermobilityKyphosisUpper limb hypertoniaHearing impairmentLimb dystoniaImpaired vibratory sensationMicrocephalyAbnormal auditory canal morphologyFailure to thriveVentriculomegalyCortical dysplasiaImpaired proprioception

Classification & Codes

Orphanet Code

ORPHA:319199
hereditary spastic paraplegia 53
OrphanetORPHA:319199
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO