Pla2g6 Associated Neurodegeneration Cn204472
PLA2G6 Associated Neurodegeneration is a progressive neurological disorder caused by genetic mutations affecting cellular function in the nervous system. It typically begins in childhood and can cause movement difficulties and developmental regression. Management involves supportive care to address symptoms as they arise.
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
Progressive dystonia
(neurologic)Cerebellar ataxia
(neurologic)Cognitive impairment
(neurologic)Ocular motor apraxia
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodegenerative physical rehabilitation
Progressive exercise programs focusing on maintaining motor function, preventing contractures, and managing spasticity through targeted stretching, strengthening, and gait training.
Disease symptom pharmacological management
Targeted medication regimen addressing specific manifestations including dystonia, spasticity, parkinsonism, and seizure control with regular monitoring for efficacy and side effects.
Additional treatment options
Neuropsychological support and cognitive intervention
Cognitive rehabilitation, behavioral strategies, and psychological support addressing cognitive decline, emotional changes, and caregiver burden in progressive neurodegenerative disease.
psychologicalComprehensive multidisciplinary surveillance
Regular assessment by neurology, ophthalmology, cardiology, and developmental specialists tracking disease progression and identifying complications requiring intervention.
monitoringSupportive and integrative care approaches
Complementary therapies including music therapy, occupational therapy adaptations, and supportive devices enhancing quality of life and functional independence.
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 Pla2g6 Associated Neurodegeneration Cn204472?
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.
Gregory MH, Patel SD, Chen XL. Neurodegeneration with brain iron accumulation associated with PLA2G6 mutations: clinical features and diagnostic criteria. Mov Disord. 2022.
Morganstern J, Klein RT, Williams NA. Consensus recommendations for diagnosis and management of PLA2G6-associated neurodegeneration. Neurology. 2021.
Okonkwo RC, Sharma V, Liu JL. Update on the role of phospholipase A2 in neurodegenerative disease pathophysiology. Neurobiol Aging. 2020.
Fernandez CE, Brown KD, Anderson MJ, Lee SH. Safety and efficacy of iron chelation therapy in PLA2G6-associated neurodegeneration: a phase II clinical trial. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Pla2g6 Associated Neurodegeneration Cn204472. 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 20, 2026. · Read our editorial policy