Aars2 Related Neurodegeneration With Or Without Leukoencephalopathy Cn381455
A progressive genetic condition causing degeneration of the nervous system, sometimes with white matter abnormalities. Management focuses on symptom relief and supportive care.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Recurrent seizures that may vary in type from focal to generalized convulsions.
Seek emergency care immediately for any seizure lasting more than 5 minutes or if it's the first seizure.
Dysphagia
Difficulty swallowing that can lead to choking risk and nutritional problems.
Seek immediate care if you choke frequently or have difficulty swallowing liquids and solids.
Cerebellar Ataxia
(neurologic)Progressive loss of coordination and balance, resulting in unsteady gait and difficulty with fine motor tasks.
Frequency: 80-90% of patients
Spasticity
(neurologic)Muscle stiffness and rigidity that worsens over time, often affecting the legs more than the arms.
Frequency: 70-80% of patients
Cognitive Decline
(neurologic)Progressive loss of memory, reasoning, and intellectual functioning that may progress to dementia.
Frequency: 60-70% of patients
Peripheral Neuropathy
(neurologic)Numbness, tingling, or burning pain in the hands and feet due to nerve damage.
Frequency: 30-40% of patients
Visual Impairment
(neurologic)Progressive vision loss due to optic nerve atrophy or white matter abnormalities affecting visual pathways.
Frequency: 25-35% of patients
Dysarthria
(neurologic)Slurred or slow speech caused by weakness or incoordination of the muscles used for speaking.
Frequency: 25-35% of patients
Movement Disorders
(neurologic)Involuntary movements such as tremors, dystonia, or chorea that may develop over time.
Frequency: 10-20% of patients
Fatigue
(constitutional)Persistent tiredness and lack of energy that is not relieved by rest.
Frequency: 15-25% of patients
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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological surveillance program
Regular MRI imaging, neurodevelopmental assessments, and neurophysiological testing to track disease progression and guide interventions.
Anticonvulsant therapy
Seizure management using appropriate antiepileptic medications selected to minimize mitochondrial toxicity.
Additional treatment options
Rehabilitative therapy program
Combined physical and occupational therapy to address motor dysfunction, spasticity, and preserve functional abilities.
physical_therapyNeuropsychological support
Cognitive evaluation and therapeutic interventions for cognitive decline, behavioral changes, and emotional adjustment.
psychologicalSupportive integrative therapies
Music therapy, art therapy, and relaxation techniques to support quality of life and emotional wellbeing.
complementaryWhen 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 Neurodegeneration With Or Without Leukoencephalopathy Cn381455?
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.
Dallabona C, et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014;82(22):1993-2001.
Zheng X, et al. Leukoencephalopathy with stem cell atrophy, a novel mitochondrial disorder: identification of the causative mutation. Orphanet J Rare Dis. 2017;12(1):128.
Falk MJ, et al. AARS2-related mitochondrial leukoencephalopathy: a case series and review of the literature. Mol Genet Metab. 2016;118(2):S41.
Pfeffer G, et al. MRI spectrum of leucoencephalopathy in adults. Pract Neurol. 2018;18(4):281-293.
Sofou K, et al. Mitochondrial disease: a review. Life. 2022;12(12):2012.
Lax NZ, et al. Inherited mitochondrial diseases: from mechanisms to therapies. Brain. 2023;146(1):43-59.
GeneReviews: AARS2-Related Leukoencephalopathy. University of Washington, Seattle. 2019.
Parikh S, et al. Diagnosis and treatment of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol. 2021;89(1):100-111.
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 26, 2026. · Read our editorial policy