Alpers disease
ICD-10 G31.81 is a billable code used to indicate a diagnosis of alpers disease.
Alpers disease, also known as Alpers-Huttenlocher syndrome, is a rare neurodegenerative disorder characterized by progressive neurological decline, typically manifesting in childhood or early adulthood. It is caused by mutations in the POLG gene, which is essential for mitochondrial DNA replication. Clinically, patients may present with a combination of symptoms including developmental regression, seizures, ataxia, and cognitive decline. The disease often leads to severe cognitive impairment and can be associated with liver dysfunction. Diagnosis is primarily clinical, supported by genetic testing to identify POLG mutations. The progressive nature of the disease necessitates a multidisciplinary approach to management, including neurologists, geneticists, and rehabilitation specialists. Given its rarity, awareness and understanding of Alpers disease are crucial for timely diagnosis and intervention, which can significantly impact the quality of life for affected individuals.
Comprehensive neurological assessments, including cognitive evaluations and seizure activity documentation.
Patients presenting with seizures, developmental delays, or cognitive decline.
Ensure detailed documentation of neurological findings and any genetic testing performed.
Genetic test results confirming POLG mutations and family history documentation.
Patients with a family history of mitochondrial disorders or unexplained neurological symptoms.
Document the rationale for genetic testing and any counseling provided to the family.
Used when confirming a diagnosis of Alpers disease.
Document the reason for testing and results.
Geneticists should ensure thorough family history documentation.
Alpers disease is primarily caused by mutations in the POLG gene, which affects mitochondrial DNA replication.
