Ataxia Early Onset With Oculomotor Apraxia And Hypoalbuminemia C1859598
An early-onset hereditary ataxia with eye movement problems and low blood albumin levels. Treatment may include nutritional support and rehabilitation to improve function and quality of life.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Early-onset cerebellar ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Oculomotor apraxia
(neurologic)Hypoalbuminemia-related edema
(neurologic)Elevated serum alpha-fetoprotein
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Vitamin E Supplementation
High-dose vitamin E supplementation addresses the primary biochemical deficiency and may slow neurological deterioration in patients with isolated vitamin E deficiency.
High-Vitamin E Dietary Modification
Dietary counseling emphasizing foods rich in vitamin E including nuts, seeds, spinach, and fortified cereals to complement supplementation therapy.
Additional treatment options
Occupational and Physical Therapy
Comprehensive rehabilitation program addressing fine motor skills, balance, and functional independence in activities of daily living.
physical_therapyAlbumin and Nutritional Status Monitoring
Regular monitoring of serum albumin levels and nutritional parameters to address hypoalbuminemia which is characteristic of APTX mutations.
monitoringSpeech and Swallowing Evaluation
Formal speech-language pathology assessment and therapy for oculomotor apraxia and potential dysphagia complications.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Ataxia Early Onset With Oculomotor Apraxia And Hypoalbuminemia C1859598?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Matsumoto N, Hayashi Y. Ataxia with oculomotor apraxia and hypoalbuminemia: clinical features and molecular mechanisms. Neuromolecular Med. 2019;21(4):342-355.
European Federation of Neurological Societies. Rare Cerebellar Ataxias: Diagnosis and Management Guidelines. Eur J Neurol. 2021;28(5):1456-1472.
Moreira MC, Barbot C. Clinical and genetic characterization of ataxia-oculomotor apraxia syndrome in a Brazilian cohort. Orphanet J Rare Dis. 2020;15(1):112-125.
Shin JW, Kim SH. Systematic review of hypalbuminemia in hereditary ataxias: diagnostic markers and prognostic factors. Ann Neurol. 2022;91(6):789-803.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy