Cerebellar ataxia with defective DNA repair
ICD-10 G11.3 is a billable code used to indicate a diagnosis of cerebellar ataxia with defective dna repair.
Cerebellar ataxia with defective DNA repair is a hereditary condition characterized by progressive ataxia due to dysfunction in the cerebellum, which is responsible for coordination and balance. This condition is often associated with genetic mutations that impair the body's ability to repair DNA, leading to neurodegeneration. Patients typically present with symptoms such as unsteady gait, difficulty with fine motor tasks, and potential cognitive decline. The onset of symptoms can vary, with some individuals experiencing early onset in childhood while others may not show symptoms until adulthood. The condition is part of a broader category of ataxias, which can be hereditary or acquired, and is often linked to other neurodegenerative diseases. Genetic testing is crucial for diagnosis, as it can identify specific mutations associated with defective DNA repair mechanisms. Management focuses on symptomatic relief and supportive therapies, including physical therapy to improve coordination and balance.
Detailed neurological examination findings, genetic testing results, and family history.
Patients presenting with progressive ataxia, balance issues, and cognitive decline.
Ensure thorough documentation of neurological assessments and any interventions.
Results of genetic tests, family pedigree, and counseling notes.
Patients undergoing genetic testing for hereditary ataxias.
Accurate coding of genetic tests performed and their implications for family members.
Used when genetic testing is performed to confirm defective DNA repair.
Documentation of clinical indications for testing and results.
Neurology and genetics specialists should ensure accurate coding of genetic tests.
Genetic testing is crucial for confirming the diagnosis of G11.3, as it identifies specific mutations associated with defective DNA repair, which is essential for accurate coding and management of the condition.
