Familial dysautonomia [Riley-Day]
ICD-10 G90.1 is a billable code used to indicate a diagnosis of familial dysautonomia [riley-day].
Familial dysautonomia, also known as Riley-Day syndrome, is a rare genetic disorder that primarily affects the autonomic nervous system. It is characterized by a range of symptoms including severe orthostatic hypotension, insensitivity to pain, temperature dysregulation, and gastrointestinal dysmotility. Patients often experience recurrent episodes of vomiting, difficulty swallowing, and a lack of tears due to autonomic dysfunction. The disorder is caused by mutations in the IKBKAP gene, which is essential for the development and function of sensory and autonomic neurons. Individuals with familial dysautonomia may also present with developmental delays and cognitive impairments. Pain syndromes are particularly complex in these patients, as they may not perceive pain in the same way as individuals without the disorder. This can lead to undiagnosed injuries and complications. Additionally, patients may develop hydrocephalus due to abnormal cerebrospinal fluid dynamics, further complicating their clinical picture. Overall, familial dysautonomia presents a unique set of challenges for diagnosis and management, requiring a multidisciplinary approach to care.
Detailed neurological assessments and documentation of autonomic symptoms are essential.
Neurological evaluations for pain management and autonomic dysfunction.
Neurologists must document the specific autonomic symptoms and their impact on daily living.
Genetic testing results and family history must be documented.
Counseling families about the genetic nature of the disorder.
Geneticists should provide clear documentation of the genetic mutation and its implications.
Used for assessing cognitive function in patients with familial dysautonomia.
Document the need for testing based on cognitive concerns.
Psychologists should note the impact of autonomic dysfunction on cognitive assessments.
Familial dysautonomia is a genetic disorder that affects the autonomic nervous system, leading to a variety of symptoms including pain insensitivity, gastrointestinal issues, and orthostatic hypotension.
Diagnosis is typically made through clinical evaluation, family history, and genetic testing to identify mutations in the IKBKAP gene.
