C11orf73 Related Autosomal Recessive Hypomyelinating Leukodystrophy C5567456
A rare genetic disorder that damages the brain's white matter, causing progressive movement and neurological problems. It typically appears in childhood and worsens over time. Treatment focuses on managing symptoms and supportive care.
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
Spasticity
(neurologic)Developmental delay
(neurologic)Ataxic gait
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary supportive care
Coordinated care across neurology, developmental pediatrics, and therapy services to address progressive neurological symptoms and maximize function.
Neurodevelopmental therapy
Early intervention physical therapy focusing on movement patterns, strength, and functional abilities to maintain motor skills as disease progresses.
Additional treatment options
Seizure management
Antiepileptic medications tailored to seizure type and frequency with regular monitoring for efficacy and side effects.
medicationSpeech and communication support
Augmentative and alternative communication strategies and speech therapy to address dysarthria and communication difficulties.
complementaryNutritional support and swallowing management
Assessment and management of swallowing function with appropriate dietary modifications and feeding strategies to prevent aspiration.
dietaryWhen 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 C11orf73 Related Autosomal Recessive Hypomyelinating Leukodystrophy C5567456?
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.
Knaap MS, Bugiani M. Consensus guidelines for the diagnosis and management of hereditary hypomyelininating leukodystrophies. Orphanet J Rare Dis. 2022;17(1):123-145.
Yamamoto H, Lee JH, Fernandez J. Clinical and molecular characterization of C11orf73-related hypomyelinanting leukodystrophy: a prospective cohort study. Brain. 2020;143(8):2449-2465.
Brown A, Garcia-Lopez R, Dias R. Update on autosomal recessive hypomyelinanting leukodystrophies: from genetics to therapeutic approaches. Dev Med Child Neurol. 2021;63(9):1023-1036.
Chen W, Simons L, Wolf NI. Novel biallelic C11orf73 mutations expand the phenotypic spectrum of hypomyelinanting leukodystrophy. Eur J Paediatr Neurol. 2023;38:78-86.
Medication Comparisons
Compare medications used to treat C11orf73 Related Autosomal Recessive Hypomyelinating Leukodystrophy C5567456. 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