Leigh's disease
ICD-10 G31.82 is a billable code used to indicate a diagnosis of leigh's disease.
Leigh's disease, also known as subacute necrotizing encephalomyelopathy, is a severe neurological disorder that primarily affects infants and young children. It is characterized by progressive loss of mental and movement abilities, often leading to death within a few years of onset. The disease is caused by mutations in mitochondrial DNA or nuclear DNA that affect mitochondrial function, leading to energy deficits in the brain and other organs. Clinically, patients may present with symptoms such as developmental delay, hypotonia, seizures, and respiratory distress. As the disease progresses, cognitive decline becomes evident, and patients may develop ataxia, dystonia, and other movement disorders. Diagnosis is typically confirmed through genetic testing, MRI findings, and metabolic assessments. Given its degenerative nature, Leigh's disease is often compared to other neurodegenerative conditions, including Alzheimer's disease, where cognitive decline is a significant concern. However, Leigh's disease has a distinct etiology and clinical presentation, necessitating careful assessment and coding to ensure accurate representation of the patient's condition.
Comprehensive neurological assessments, including MRI findings and genetic testing results.
Diagnosis and management of Leigh's disease in pediatric patients, including monitoring of developmental milestones.
Neurologists must ensure that all symptoms and diagnostic criteria are thoroughly documented to support the use of G31.82.
Detailed family history, genetic testing results, and interpretation of mitochondrial DNA mutations.
Evaluation of patients with suspected mitochondrial disorders and counseling for families.
Geneticists should provide clear documentation of the genetic basis for Leigh's disease to support coding.
Used to confirm diagnosis of Leigh's disease through genetic testing.
Documentation of the clinical indication for testing and results.
Geneticists must ensure that the rationale for testing is clearly documented.
Leigh's disease is primarily caused by genetic mutations affecting mitochondrial function, leading to energy deficits in the brain and other organs.
