E88.42
MERRF syndrome
Clinical Classification Guidelines
Inclusion Terms
- Myoclonic epilepsy associated with ragged-red fibers
Code Also
- progressive myoclonic epilepsy (G40.3-)
Medical Intelligence & Overview
MERRF syndrome, also known as Myoclonic Epilepsy with Ragged-Red Fibers, is a rare inherited disorder affecting the muscles and nervous system. Characterized by muscle weakness, seizures, and neurological issues, MERRF syndrome results from mutations in mitochondrial DNA, leading to dysfunction in energy production within cells. This condition primarily impacts tissues with high energy demands, such as muscles and the brain, causing a wide array of symptoms that can vary significantly among individuals.
Causes & Symptoms
Clinical Causes: Mutations in mitochondrial DNA, specifically in genes responsible for encoding proteins involved in energy production Inheritance from mother to child, as mitochondrial DNA is passed maternally Genetic mutations are usually spontaneous but can be inherited in an autosomal form in rare cases
Key Symptoms: Muscle weakness and wasting, especially in the arms and legs Myoclonus or sudden, involuntary muscle jerks Seizures, including various types of epileptic episodes Ataxia or problems with coordination and balance Optic atrophy, leading to progressive vision loss Sensorineural hearing loss Episodes of muscle stiffness or rigidity Lactic acidosis, which can cause fatigue and breathing difficulty Cognitive impairment and developmental delays in some cases Cardiac issues and respiratory problems in severe cases
Diagnostic & Treatment
Diagnosis Path: Diagnosing MERRF syndrome involves a combination of clinical evaluation, neurological assessments, and laboratory testing. Key diagnostic steps include:
Treatment Protocols: There is currently no cure for MERRF syndrome. Treatment focuses on managing symptoms and improving quality of life through a multidisciplinary approach:
Clinical Advice & FAQs
Billing Guidance
Is E88.42 a billable ICD-10 code?
Yes, E88.42 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E88.42?
Clinical documentation must specify the nature of MERRF syndrome and any associated comorbidities for accurate reporting.
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