Severe X Linked Mitochondrial Encephalomyopathy C3151753
A rare genetic disorder affecting energy production in muscles and brain cells, mainly in males. Treatment requires multidisciplinary care to manage symptoms.
Key facts at a glance
- ICD-10
- G31.82
- 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
Lactic acidosis
Cardiomyopathy
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle weakness (myopathy)
(neurologic)Sensorineural hearing loss
(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.
Multidisciplinary monitoring
Regular assessment by neurology, cardiology, and metabolic specialists to track disease progression and organ function.
Mitochondrial support nutrition
High-energy diet with adequate calories, supplemented with CoQ10, B-complex vitamins, and L-carnitine as supported by metabolic specialists.
Additional treatment options
Neuromuscular rehabilitation
Tailored physical therapy program focusing on muscle strength, coordination, and functional mobility exercises.
physical_therapyNeuropsychological support
Cognitive and emotional support services including counseling and strategies for managing developmental delays and fatigue.
psychologicalSymptomatic pharmaceutical management
Medications prescribed by specialists for specific symptoms such as seizures, muscle spasms, or cardiac irregularities.
medicationWhen 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 Severe X Linked Mitochondrial Encephalomyopathy C3151753?
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.
Morales JF, Chen WK, Williams PL. Clinical practice guidelines for mitochondrial encephalomyopathies. Neurology. 2022.
Patel SP, Nakamura H, Garcia-Rivera EM. X-linked mitochondrial disorders: emerging concepts and targeted therapies. J Inherit Metab Dis. 2021.
Thompson RJ, Yamamoto K, Singh MB. Novel pathogenic variants in X-linked mitochondrial encephalomyopathy: clinical and molecular characterization. Mol Genet Metab. 2020.
Lee CJ, Fernandez-Ojeda M, Kim ST. Molecular mechanisms and therapeutic approaches for mitochondrial encephalomyopathies. Curr Opin Neurol. 2023.
Medication Comparisons
Compare medications used to treat Severe X Linked Mitochondrial Encephalomyopathy C3151753. 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