From the Research
Fahr's disease is a rare neurological disorder that requires a conservative management approach, focusing on symptomatic relief, as there is no definitive cure available. The condition is characterized by idiopathic basal ganglia and cerebral cortex calcifications, leading to a wide range of neurological manifestations, including motor dysfunction, sensory deficits, seizures, headaches, visual disturbances, and movement disorders 1. The diagnosis of Fahr's disease involves brain imaging, such as CT scans, which are most effective at detecting calcifications, as well as genetic testing and ruling out other causes of brain calcification 2.
The symptoms of Fahr's disease can vary significantly between individuals, but common manifestations include movement disorders, cognitive decline, mood disorders, seizures, and speech difficulties 3. The disease is often genetic, with several identified gene mutations, particularly the SLC20A2 gene, and can appear in middle adulthood, but can develop at any age 4.
In terms of management, a conservative approach is usually employed, based on symptomatology, and may include medications for specific issues like movement disorders, psychiatric symptoms, and seizures, as well as physical, occupational, and speech therapy to help maintain function 5. The disease is progressive, but the rate varies significantly between individuals, with some experiencing rapid decline and others having a more stable course over many years.
Key considerations in the management of Fahr's disease include:
- Symptomatic relief
- Medications for specific issues, such as movement disorders, psychiatric symptoms, and seizures
- Physical, occupational, and speech therapy to maintain function
- Genetic counseling for families with a known history of the disease
- Regular monitoring and follow-up to adjust management as needed.