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hereditary spastic paraplegia 44

MeSH: C567707ORPHA: 320401

Contents

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

Overview

gene (1q41-q42) encoding the gap junction gamma-2 protein

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 44, sourced from HPO and Orphanet clinical annotations.

StrabismusAbnormality of visual evoked potentialsAtaxiaDysarthriaPes cavusLower limb spasticityCNS hypomyelinationAbnormal auditory evoked potentialsAbnormality of somatosensory evoked potentialsAbnormal motor evoked potentialsSensorineural hearing impairmentSeizureGait disturbanceUrinary bladder sphincter dysfunctionSomatic sensory dysfunctionDelayed gross motor development

Classification & Codes

MeSH Code

C567707

Orphanet Code

ORPHA:320401
hereditary spastic paraplegia 44
MeSHC567707
OrphanetORPHA:320401
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO