From the Research
Fahr's syndrome is a rare neurological disorder that requires early diagnosis and treatment to slow progression and improve quality of life, with a focus on addressing underlying calcium metabolism disorders and symptomatic relief. The condition is characterized by abnormal calcium deposits in the brain's basal ganglia and cerebral cortex, leading to a combination of movement disorders, cognitive impairment, speech difficulties, and psychiatric symptoms 1. Diagnosis involves brain imaging, such as CT scans, which are more sensitive than MRI for detecting calcifications, and laboratory tests to check calcium, phosphate, and parathyroid hormone levels 2, 3.
Key Features of Fahr's Syndrome
- Abnormal calcium deposits in the brain's basal ganglia and cerebral cortex
- Movement disorders, such as parkinsonism, chorea, or dystonia
- Cognitive impairment, speech difficulties, and psychiatric symptoms
- Disruptions in calcium and phosphate metabolism, particularly hypoparathyroidism
Treatment and Management
- Addressing underlying calcium metabolism disorders, particularly normalizing calcium levels if hypoparathyroidism is present, with calcium supplementation (1-2g daily) and active vitamin D (calcitriol 0.25-1 mcg daily) 2
- Symptomatic treatment, including medications for movement disorders, antipsychotics for psychiatric symptoms, and anticonvulsants if seizures occur
- Early diagnosis and treatment may help slow progression and improve quality of life, with a focus on individualized treatment plans and regular monitoring 1
Recent Evidence and Recommendations
- A recent case report and literature review highlights the importance of early diagnosis and treatment of Fahr's syndrome, with a focus on addressing underlying calcium metabolism disorders and symptomatic relief 1
- The use of combination therapy, including aripiprazole, trihexyphenidyl, and botulinum toxin, may be effective in managing segmental craniocervical dystonia, a condition related to Fahr's syndrome 4