What is Fahr Disease?
Fahr Disease which is now known by the name of Primary Familial Brain Calcification is an extremely rare neurological disorder in which there is abnormal calcification in parts of the brain like the basal ganglia and the thalamus which results in a myriad of symptoms like gradually diminishing memory, psychosis, frequent mood swings, and psychomotor retardation. Over time as the disease condition progresses, the affected individual tends to develop muscle stiffness and his or her movements become extremely restricted. Additionally, the affected individual may also have involuntary jerking movements as a result of Fahr Disease.
What are the Causes of Fahr Disease?
There was not a specific cause identified for the development of Fahr Disease but researchers have come up with a theory which states that primarily there are two genes that are responsible for this disorder. These are the SLC20A2 gene located in chromosome 8, PDGFB, and PDGFRB genes the mutations in which are believed to cause Fahr Disease.
This disease follows an autosomal dominant pattern of inheritance meaning that only one copy of the faulty gene from either parent is enough for a child to develop Fahr Disease. In some cases, Fahr Disease can be caused due to spontaneous mutations in these genes which are called de novo mutations.
The cause for these mutations are not found but are believed to occur during the fetal development resulting in development of Fahr Disease. In such cases, the child does not inherit Fahr Disease.
What are the Symptoms of Fahr Disease?
The characteristic features of Fahr Disease are abnormal calcium deposits in the basal ganglia, thalamus, and cerebral white matter of the brain. These abnormalities may be found as early as when the child is approximately 10 years of age.
The other neuropsychiatric symptoms of Fahr Disease tend to become evident at a much later stage in life usually when the affected individual is in the 50s or 60s.
The initial signs of Fahr Disease may include clumsiness, persistent fatigue, slurred speech, and dysphagia. In some cases, individuals may not show any symptoms of the disease until much later in life.
Dementia is something which is seen much later in life followed by gradual deterioration of motor skills. Some individuals may exhibit symptoms that are quite similar to Parkinson Syndrome to include tremors, masked facies, rigidity, and waddling gait.
Dystonia, chorea, and seizures also tend to occur in some cases of Fahr Disease. Additionally, individuals may also exhibit symptoms of frequent headaches, some sensory changes, and even urinary incontinence in some cases of Fahr Disease.
How is Fahr Disease Diagnosed?
The best way to diagnose Fahr Disease is by analyzing the symptoms that the patient exhibits. Once other conditions that cause similar symptoms are ruled out then advanced imaging studies of the brain in the form of CT and MRI scans can be conducted which will clearly show calcium deposits in the brain confirming the diagnosis of Fahr Disease.
How is Fahr Disease Treated?
There is no cure for Fahr Disease. The treatment is basically symptomatic. There are medications available to treat the various symptoms that are seen with a condition like Fahr Disease like seizures, depression, anxiety, and movement disorders.
For ambulation abnormalities, the patient can be given a walking aid in the form of a cane or a walker to help the patient ambulate independently. Seizures can be controlled with anticonvulsants whereas anxiety and depression can be controlled with anxiolytics and antidepressants.
Genetic counseling also is quite helpful for individuals and their family members who have mutations in the genes that are responsible for this condition and are at risk for developing Fahr Disease.
