autosomal recessive ataxia, Beauce type
ORPHA: 88644
Overview
gene mutations
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 autosomal recessive ataxia, Beauce type, sourced from HPO and Orphanet clinical annotations.
AtaxiaCerebellar atrophyGait disturbanceUpper motor neuron dysfunctionShort attention spanSpasticityMotor delayReduced tendon reflexesHyperreflexiaLower limb spasticityFasciculationsSkeletal muscle atrophyBabinski signLower limb muscle weaknessUrinary incontinenceStrabismusPtosisAbnormal saccadic eye movementsOphthalmoparesisIntellectual disabilityDysarthriaDysmetriaNeonatal hypotoniaDecreased fetal movementPes cavusClumsinessAbnormal cerebral white matter morphologyScoliosisKyphosisEMG: neuropathic changesChronic axonal neuropathyImpaired smooth pursuitAnkle clonusSquare-wave jerksArm dystoniaPolyneuropathyAbnormality of the respiratory systemImpaired vibratory sensationSensory axonal neuropathyMotor polyneuropathyAtrophy/Degeneration affecting the brainstem
Classification & Codes
Orphanet Code
ORPHA:88644autosomal recessive ataxia, Beauce type
| Orphanet | ORPHA:88644 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO