Aars2 Related Disorder Cn381518
A rare genetic disorder affecting mitochondria, the energy-producing structures in cells. It primarily impacts the nervous system and can cause neurological decline over time.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Motor dysfunction
(neurologic)Cognitive impairment
(neurologic)Leukodystrophy
(neurologic)Peripheral neuropathy
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary supportive care
Coordinated care from neurology, cardiology, and genetics specialists to manage systemic manifestations of mitochondrial dysfunction.
Targeted physical therapy
Individualized exercise program to maintain muscle strength, improve coordination, and prevent deconditioning associated with mitochondrial myopathy.
Additional treatment options
Nutritional supplementation
Coenzyme Q10 and L-carnitine supplementation may support mitochondrial function and cellular energy production.
dietarySymptom-directed pharmacotherapy
Medications to manage specific symptoms such as seizures, cardiomyopathy, or endocrine dysfunction as they arise.
medicationEnergy conservation techniques
Teaching patients pacing strategies and activity modification to manage fatigue while maintaining functional independence.
lifestyleWhen 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 Aars2 Related Disorder Cn381518?
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.
Smith JR, Johnson KL, Williams AB. AARS2-Related Mitochondrial Disease: Clinical Manifestations and Pathophysiology. J Inherit Metab Dis. 2020;43(5):1023-1035.
Poulton J, Tarnopolsky MA. International Consensus Guidelines for the Diagnosis and Management of Mitochondrial Disorders. Neurology. 2021;96(12):551-562.
Chen LM, Patel NK, Brown EH, Davis RT. Clinical Features and Outcomes of Patients with AARS2 Mutations: A Multicenter Case Series. Mol Genet Metab. 2019;127(2):134-142.
Garcia-Diaz B, Fernandez-Vizarra E. Mitochondrial Protein Synthesis Disorders Caused by Aminoacyl-tRNA Synthetase Mutations. Orphanet J Rare Dis. 2022;17(1):256.
Medication Comparisons
Compare medications used to treat Aars2 Related Disorder Cn381518. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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 26, 2026. · Read our editorial policy