ataxia with oculomotor apraxia type 1

MeSH: C538013ORPHA: 11681 Treatment Available

Contents

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

Overview

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
Betaine anhydrous Orphan	Oral powder for solution 1g/1.7mL	FDA Approved	8	21d

Clinical Presentation

Signs and symptoms associated with ataxia with oculomotor apraxia type 1, sourced from HPO and Orphanet clinical annotations.

Abnormality of the nervous systemAtaxiaGait disturbancePeripheral neuropathyMedial flaring of the eyebrow

Classification & Codes

MeSH Code

C538013

Orphanet Code

ORPHA:1168

ataxia with oculomotor apraxia type 1

MeSH	`C538013`
Orphanet	`ORPHA:1168`
Treatments	1 drug(s)
Symptoms on record	5 signs
Status	published

Treatment Summary

Betaine anhydrous· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO