Adrenomyeloneuropathy
ICD-10 E71.522 is a billable code used to indicate a diagnosis of adrenomyeloneuropathy.
Adrenomyeloneuropathy (AMN) is a genetic disorder that primarily affects the adrenal glands and the nervous system. It is a form of X-linked adrenoleukodystrophy (X-ALD) characterized by the accumulation of very long-chain fatty acids (VLCFAs) due to a deficiency in the enzyme acyl-CoA synthetase. This enzyme is crucial for the breakdown of VLCFAs, and its deficiency leads to their toxic accumulation, particularly in the adrenal cortex and myelin sheath of the nervous system. Clinically, AMN manifests in adulthood with progressive weakness, sensory loss, and spasticity due to demyelination in the spinal cord and peripheral nerves. Patients may also experience adrenal insufficiency, which can lead to symptoms such as fatigue, weight loss, and low blood pressure. Diagnosis is typically confirmed through biochemical testing for VLCFAs and genetic testing for mutations in the ABCD1 gene. Management focuses on symptomatic treatment and monitoring for adrenal insufficiency, with potential interventions including hormone replacement therapy and physical rehabilitation.
Detailed neurological examination findings, including motor and sensory assessments.
Patients presenting with progressive weakness, sensory deficits, or spasticity.
Ensure comprehensive documentation of neurological symptoms and their impact on daily functioning.
Documentation of adrenal function tests and any hormone replacement therapies.
Patients with adrenal insufficiency symptoms or those undergoing hormone replacement.
Document any changes in adrenal function and response to treatment.
Used when confirming a diagnosis of AMN.
Document the reason for testing and the results.
Neurology and genetics specialists should collaborate on documentation.
Adrenomyeloneuropathy is primarily caused by mutations in the ABCD1 gene, leading to a deficiency in the enzyme responsible for the breakdown of very long-chain fatty acids.
