spinocerebellar ataxia type 7

ORPHA: 941471 Treatment Available

Overview

Human disease

Available Treatments (1)

DrugFormStatusCountriesLead Time
Vigabatrin
Orphan
Oral tablet 500mg; Oral powder for solution 500mg sachetsFDA Approved, EMA Approved614d

Clinical Presentation

Signs and symptoms associated with spinocerebellar ataxia type 7, sourced from HPO and Orphanet clinical annotations.

AtaxiaDysarthriaDysmetriaHyperreflexiaCone/cone-rod dystrophyDysphagiaVisual lossOphthalmoparesisOphthalmoplegiaNystagmusAbnormal fundus morphologyGlobal developmental delayMental deteriorationMotor delayCerebellar atrophyNeonatal hypotoniaMuscle weaknessFailure to thriveCongestive heart failureCerebral atrophyDysdiadochokinesisOrofacial dyskinesiaSomatic sensory dysfunctionBabinski signReduced visual acuityFeeding difficultiesRestless legsMacular degenerationPhotophobiaBlindnessPsychosisHemeralopia

Classification & Codes

Orphanet Code

ORPHA:94147
spinocerebellar ataxia type 7
OrphanetORPHA:94147
Treatments1 drug(s)
Symptoms on record32 signs
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO