Friedreich ataxia
ICD-10 G11.11 is a billable code used to indicate a diagnosis of friedreich ataxia.
Friedreich ataxia is a hereditary degenerative disease characterized by progressive ataxia, which is a lack of voluntary coordination of muscle movements. It is caused by mutations in the FXN gene, leading to reduced levels of frataxin, a protein essential for mitochondrial function. The condition typically manifests in childhood or early adulthood and is associated with symptoms such as gait and limb ataxia, loss of deep tendon reflexes, scoliosis, and sensory loss. Patients may also experience hypertrophic cardiomyopathy and diabetes mellitus. The disease progresses over time, leading to significant disability and reduced life expectancy. Diagnosis is primarily clinical, supported by genetic testing and MRI findings that may show spinal cord atrophy. Management focuses on symptomatic treatment and supportive care, including physical therapy and monitoring for cardiac complications.
Detailed neurological examination findings, genetic test results, and symptom history.
Initial diagnosis of ataxia, management of progressive symptoms, and coordination of care with other specialists.
Ensure thorough documentation of neurological deficits and any referrals to genetic counseling.
Cardiac evaluation results, including echocardiograms and any interventions performed.
Monitoring for hypertrophic cardiomyopathy in patients with Friedreich ataxia.
Document any cardiac symptoms and their management, as they are critical for comprehensive care.
Used for cognitive assessment in patients with Friedreich ataxia.
Document the rationale for testing and results.
Neurology specialists should ensure comprehensive cognitive evaluations.
Friedreich ataxia is primarily caused by mutations in the FXN gene, which leads to reduced levels of frataxin, affecting mitochondrial function.
Diagnosis is made through clinical evaluation, family history, and genetic testing to confirm mutations in the FXN gene.
