Definition

What is Fahr disease?

Fahr disease, also known as 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. This calcification 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.

How common is Fahr disease?

Please discuss with your doctor for further information.

Symptoms

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 seen much later in life followed by gradual deterioration of motor skills. Some individuals may show symptoms that are quite similar to Parkinson Syndrome, including 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 experience frequent headaches, some sensory changes, and even urinary incontinence.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Fahr disease?

There was not a specific cause identified for the development of Fahr disease. However, researchers suggest that primarily there are two genes that are responsible for this disorder: the SLC20A2 gene located in chromosome 8, PDGFB, and PDGFRB genes. The mutations in these genes are believed to cause Fahr disease.

Fahr 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.

Risk factors

What increases my risk for Fahr disease?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

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, advanced imaging studies of the brain (CT and MRI scans) can be conducted to find calcium deposits to confirm 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 result from Fahr Disease like seizures, depression, anxiety, and movement disorders.

For ambulation abnormalities, the patient can be given a walking aid. Seizures can be controlled with anticonvulsants whereas anxiety and depression can be controlled with anxiolytics and antidepressants.

Genetic counseling also is quite helpful for patients and their family who are at risk for developing Fahr Disease.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Fahr disease?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 11, 2018 | Last Modified: February 11, 2018

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