2025 ICD-10-CM code G11.3
(Valid) Effective Date: N/A Diseases of the nervous system - Systemic atrophies primarily affecting the central nervous system 6 Feed
Cerebellar ataxia with defective DNA repair (Ataxia telangiectasia [Louis-Bar]).
Medical necessity for services related to G11.3 stems from the complex, progressive nature of the condition and the need for ongoing monitoring and management of its various manifestations.Genetic testing is medically necessary for confirming the diagnosis.Treatment of associated infections, cancers, and other health problems is also medically justified due to the increased risks associated with ataxia telangiectasia.
Diagnosis and management are typically overseen by neurologists, often with a multidisciplinary team including geneticists, immunologists, oncologists, and other specialists depending on the patient's specific needs.
In simple words: Cerebellar ataxia with defective DNA repair is a very rare genetic disease that mostly affects children.It causes problems with balance, coordination, speech, and eye movements.Dilated blood vessels may also appear on the skin.It's caused by a problem with a gene that repairs damage to cells. This makes it harder for the body to fight infections and increases the chance of getting certain types of cancer. Treatment focuses on managing symptoms and providing support.
Cerebellar ataxia with defective DNA repair, also known as ataxia telangiectasia or Louis-Bar syndrome, is a rare, autosomal recessive genetic disorder primarily affecting children.It is caused by a mutation of the ataxia telangiectasia mutated (ATM) gene, which is responsible for repairing cellular DNA damage from radiation, oxidation, and chemotherapy. The condition presents with progressive neurological symptoms including cerebellar ataxia (unsteady gait, poor coordination), oculomotor apraxia (difficulty controlling eye movements), nystagmus (jerky eye movements), and dysarthria (slurred speech).Telangiectasias (dilated blood vessels) appear in the eyes and sun-exposed skin. Patients have an increased risk of cancers, infections, and endocrine/autoimmune diseases.Diagnosis involves clinical evaluation, serum alpha-fetoprotein levels, immunoglobulin analysis, and genetic testing.Treatment focuses on supportive care, managing associated conditions, and avoiding radiation exposure.
Example 1: A 3-year-old child presents with difficulty walking, frequent falls, and slurred speech.Upon examination, the doctor notes jerky eye movements and dilated blood vessels in the child's eyes. Genetic testing confirms a diagnosis of G11.3., A 7-year-old with a history of ataxia telangiectasia develops recurrent sinus infections and pneumonia.The child's immunodeficiency, associated with G11.3, necessitates aggressive treatment of these infections., A teenager with G11.3 undergoes routine screening for leukemia and lymphoma due to the increased risk associated with the condition.
Documentation should include detailed neurological examination findings, genetic testing results, family history, and the presence of telangiectasias.Documentation of associated conditions like infections, cancers, or endocrine issues should also be included.
** Excludes2: Cockayne's syndrome (Q87.19), other disorders of purine and pyrimidine metabolism (E79.-), xeroderma pigmentosum (Q82.1)
- Specialties:Neurology, Genetics, Immunology, Oncology
- Place of Service:Office, Inpatient Hospital, Outpatient Hospital,Specialized clinics