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Spastic ataxia-corneal dystrophy syndrome

MeSH: C536989ORPHA: 2572

Contents

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

Overview

Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia

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 ataxia-corneal dystrophy syndrome, sourced from HPO and Orphanet clinical annotations.

Developmental cataractMyopiaOptic atrophyCorneal dystrophyAtaxiaGait disturbanceSpastic ataxiaSpinocerebellar tract degenerationEMG abnormalityDecreased circulating immunoglobulin concentrationHemiplegia/hemiparesisAplasia/Hypoplasia of the cerebellum

Classification & Codes

MeSH Code

C536989

Orphanet Code

ORPHA:2572
Spastic ataxia-corneal dystrophy syndrome
MeSHC536989
OrphanetORPHA:2572
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO