autosomal recessive spinocerebellar ataxia 16

ORPHA: 412057

Contents

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

Overview

human disease

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 spinocerebellar ataxia 16, sourced from HPO and Orphanet clinical annotations.

IridocyclitisRetinal atrophySaccadic smooth pursuit interruptionsSeizureAlopeciaPancreatitisAbnormal facial shapeAbnormal sella turcica morphologyType II diabetes mellitusAbnormal involuntary eye movementsDelayed menarcheType I diabetes mellitusDysarthriaCerebellar atrophyLimb ataxiaTruncal ataxiaArachnodactylyAdducted thumbGait disturbanceHyperreflexiaPostural instabilityUnsteady gaitProgeroid facial appearanceImpaired proprioceptionAbnormal motor evoked potentialsHypogonadismHearing impairmentOphthalmoplegiaNystagmusGaze-evoked nystagmusHorizontal nystagmusGlobal developmental delayCerebellar hypoplasiaDysphagiaLower limb spasticityRigidityAbnormal speech patternPostural tremorHead tremorMemory impairmentHand tremorDistal amyotrophyHyperactive deep tendon reflexesCorpus callosum atrophySpeech apraxiaAnkle clonusParietal cortical atrophyHypoplasia of the ponsCognitive impairmentGlaucomaOculomotor apraxiaInfertilityHypothyroidismOligomenorrhea

Classification & Codes

Orphanet Code

ORPHA:412057

autosomal recessive spinocerebellar ataxia 16

Orphanet	`ORPHA:412057`
Treatments	0 drug(s)
Symptoms on record	54 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO