2025 ICD-10-CM code G90.1
(Valid) Effective Date: N/A Diseases of the nervous system - Other disorders of the nervous system 6 Feed
Familial dysautonomia, also known as Riley-Day syndrome, is a rare genetic disorder affecting the autonomic nervous system, which controls involuntary bodily functions.
Medical necessity for services related to familial dysautonomia should be supported by documentation of the diagnosis and its impact on the patient's functional status, requiring specific interventions and management.
Diagnosis is based on clinical presentation, medical history, and specific diagnostic tests such as the histamine axon flare test. Treatment focuses on managing symptoms and may include medication for anxiety, gastroparesis, and insomnia, as well as physical, occupational, and speech therapy, and assistive devices.
In simple words: Riley-Day syndrome is a genetic condition that affects how the body automatically controls things like breathing, digestion, temperature, and blood pressure.Babies with this condition may have trouble eating, weak muscles, and low body temperature.As they grow, they may not feel pain or temperature changes normally, have breathing problems, and develop more slowly than other children.Adults with this condition can have problems with their eyes, kidneys, and nerves.
Riley-Day familial dysautonomia (HSAN III) is caused by mutations in the IKBKAP gene, leading to dysfunction of the autonomic nervous system. This affects multiple systems, including digestion, respiration, tear production, temperature and blood pressure regulation. Symptoms vary with age, starting with feeding difficulties, poor muscle tone, and low body temperature in newborns.Infants show a lack of tears, cold extremities, unstable blood pressure, respiratory infections, and fluctuating body temperature.Older children and adolescents may experience decreased pain and temperature sensitivity, breath-holding spells, developmental delays, bedwetting, vomiting, poor balance, rapid heart rate, scoliosis, cramps, and poor bone quality. Adults may develop vision impairment, renal insufficiency, and neurological decline.
Example 1: A newborn infant of Ashkenazi Jewish heritage presents with difficulty feeding, poor muscle tone, and episodes of low body temperature., A 5-year-old child experiences frequent respiratory infections, lacks tears when crying, and shows insensitivity to pain and temperature., A teenager with a history of familial dysautonomia develops scoliosis, renal insufficiency, and episodes of postural hypotension.
Documentation should include detailed family history, symptoms, results of the histamine axon flare test, and other relevant clinical findings such as neurological assessments, ophthalmological evaluations, and renal function tests.
- Payment Status: Active
- Specialties:Neurology, Genetics, Pediatrics, Ophthalmology, Nephrology, Physical Medicine and Rehabilitation
- Place of Service:Inpatient Hospital, Outpatient Hospital, Office, Home Health