Choroba Fahrerska: A Rare and Devastating Neurological Disorder
What is Choroba Fahrerska?
Choroba Fahrerska, also known as Fahr's syndrome, Fahr's disease, or idiopathic basal ganglia calcification, is a rare neurological disorder characterized by the abnormal calcification of the basal ganglia, which are deep brain structures involved in motor control, cognition, and emotion.
The disease is caused by mutations in the SLC20A2 gene, which encodes a phosphate transporter protein. Mutations in this gene lead to impaired phosphate transport, resulting in the accumulation of calcium and phosphate in the basal ganglia and other brain regions.
Fahr's syndrome is typically inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is needed to cause the disease. However, cases of autosomal recessive inheritance have also been reported.
Symptoms of Choroba Fahrerska
The symptoms of Fahr's syndrome can vary depending on the severity of the calcification and the brain regions affected. Common symptoms include:
- Movement disorders, such as parkinsonism, chorea, and dystonia
- Cognitive impairment, including memory loss, difficulty with executive function, and dementia
- Psychiatric symptoms, such as depression, anxiety, and psychosis
- Seizures
- Headaches
- Nausea and vomiting
- Vision problems
The symptoms of Fahr's syndrome typically develop gradually over time, and the disease can progress slowly or rapidly. In some cases, the disease can be fatal.
Diagnosis of Choroba Fahrerska
Fahr's syndrome is diagnosed based on the patient's symptoms, a physical examination, and imaging studies. A brain MRI or CT scan can show the characteristic calcification of the basal ganglia and other brain regions.
Genetic testing can also be used to confirm the diagnosis of Fahr's syndrome. Genetic testing can identify mutations in the SLC20A2 gene that are known to cause the disease.
Treatment of Choroba Fahrerska
There is no cure for Fahr's syndrome, but treatment can help to manage the symptoms. Treatment may include:
- Medications to treat movement disorders, such as levodopa or dopamine agonists
- Medications to treat psychiatric symptoms, such as antidepressants or antipsychotics
- Surgery to remove calcified lesions in the brain (in rare cases)
- Physical therapy to improve movement and coordination
- Occupational therapy to help with daily activities
- Speech therapy to improve communication
The prognosis for Fahr's syndrome varies depending on the severity of the disease. With early diagnosis and treatment, many people with Fahr's syndrome can live full and active lives.
