E88.41 MELAS syndrome

ICD10CM code

#### Name of the Condition
- MELAS Syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes)
- ICD Code: E88.41

#### Summary
- MELAS syndrome is a rare genetic disorder affecting mitochondrial function, characterized by muscle weakness, neurological issues, lactic acidosis, and stroke-like episodes in young individuals.

#### Causes
- MELAS is primarily caused by mutations in mitochondrial DNA, most commonly in the MT-TL1 gene. These mutations affect the ability of mitochondria to produce energy efficiently.

#### Risk Factors
- Genetic inheritance from the mother, as mitochondria are maternally inherited. Family history of mitochondrial disorders increases risk.

#### Symptoms
- Early signs include muscle weakness and pain, recurrent headaches, seizures, and stroke-like episodes. Other symptoms can include vision and hearing loss, and gastrointestinal issues.

#### Diagnosis
- Diagnosis involves a combination of clinical evaluation, MRI to detect stroke-like damage, muscle biopsy, and genetic testing to identify mitochondrial DNA mutations.

#### Treatment Options
- While there is no cure, treatment focuses on managing symptoms. This can include medications for seizures, supplements like Coenzyme Q10 to support mitochondrial function, and physical therapy.

#### Prognosis and Follow-Up
- The prognosis varies; some individuals lead relatively normal lives while others experience serious complications. Regular follow-up with a neurologist and other specialists is crucial.

#### Complications
- Potential complications include progressive neurological decline, heart dysfunction, diabetes, and metabolic instability, particularly in times of stress or illness.

#### Lifestyle & Prevention
- There is no known prevention, but maintaining a healthy lifestyle with balanced nutrition and appropriate exercise may help manage symptoms. Avoiding extreme physical stress and fasting which can exacerbate symptoms is recommended.

#### When to Seek Professional Help
- Immediate medical attention is needed if there are sudden changes in neurological status, severe muscle pain, or other acute symptoms like vision changes or severe headaches.

#### Additional Resources
- MitoAction: [www.mitoaction.org](https://www.mitoaction.org)
- United Mitochondrial Disease Foundation: [www.umdf.org](https://www.umdf.org)

#### Tips for Medical Coders
- Ensure accurate documentation of accompanying symptoms and specific genetic mutations.
- Common errors include misidentifying related mitochondrial disorders, so confirm diagnostic criteria and genetic test results.

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