Fahr's Disease: Symptoms, Causes, Diagnosis & Treatment

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Fahr's disease, also known as primary familial brain calcification, is a rare neurological disorder characterized by abnormal calcium deposits in areas of the brain that control movement and cognition. It can cause movement disorders, tremors, seizures, speech difficulties, psychiatric symptoms, and cognitive decline. Early diagnosis and appropriate treatment can help manage symptoms, reduce complications, and improve quality of life.

What are the Types of Fahr's Disease?

Fahr's Disease is classified according to its underlying cause.

Primary Fahr's Disease (Primary Familial Brain Calcification): An inherited condition caused by genetic mutations leading to bilateral brain calcifications.
Secondary Fahr's Syndrome: Brain calcification resulting from underlying conditions such as parathyroid disorders, infections, autoimmune diseases, or metabolic abnormalities.

What are the Symptoms of Fahr's Disease?

The symptoms of Fahr's Disease can vary from person to person. Some people may have no symptoms at all, while others may show signs slowly over time. Symptoms usually begin between ages 30 and 60, but onset can also occur in childhood or older age.

Common symptoms include

Shaking or tremors in the hands or body
Muscle stiffness, tightness, or rigidity
Unsteady walking, poor coordination, or balance problems
Slurred or slow speech (dysarthria)
Seizures or sudden jerking movements
Short-term memory loss or confusion
Personality changes or lack of interest in daily life
Mood issues such as anxiety, irritability, or depression

In some cases, hallucinations or delusional thinking as the disease gets worse, it may make it harder to write, talk, or walk

What are the Causes and Risk Factors of Fahr's Disease?

The main cause of familial Fahr's Disease is genetic mutation. The abnormal genes affect how calcium is processed in the brain, leading to mineral deposits in regions that control body movement and cognition.

Other risk factors include

Low parathyroid hormone (hypoparathyroidism)
Autoimmune diseases like lupus
Mitochondrial or metabolic disorders
Viral infections of the brain (rare)
Genetic conditions are passed through families

Not all brain calcifications are due to Fahr's Disease. Some people may have similar findings without symptoms.

When to See a Doctor for Fahr's Disease?

Persistent movement problems, seizures, cognitive decline, or unexplained behavioral changes should be evaluated by a neurologist. Early diagnosis helps identify the cause of brain calcification and allows timely treatment to manage symptoms and reduce complications.

You should see a doctor if you have:

Progressive tremors, muscle stiffness, or difficulty walking.
Memory problems or personality changes.
A family history of Fahr's Disease or unexplained brain calcifications.

Get medical help immediately if:

A seizure or loss of consciousness.
Sudden weakness, difficulty speaking, or stroke-like symptoms.
Severe confusion or rapidly worsening neurological symptoms.

These could be signs of a serious complication like Fahr's Disease, which needs urgent care.

Find Neurologists for Fahrs Disease Treatment Near You

How is Fahr's Disease Diagnosed?

Diagnosis involves ruling out other possible causes of brain calcification. Because the symptoms may be subtle or overlap with other neurological issues, proper testing is essential.

Doctors will start with your medical history and physical exam and often recommend imaging studies.

Steps in diagnosis include

CT Scan of the Brain: This is the most accurate way to detect calcium deposits. It shows characteristic calcification patterns in the basal ganglia and other deep brain areas.
MRI Scan: Used to evaluate brain structure and rule out tumors or stroke.
Blood Tests: These help exclude other causes like abnormal calcium levels, vitamin D deficiency, or hormone imbalances (especially parathyroid hormone).
Genetic Testing: Recommended if there's a strong family history or early onset. It can confirm known gene mutations such as SLC20A2, PDGFB, or PDGFRB.

A neurologist may also perform movement tests or mental status evaluations to check memory, mood, or coordination.

What are the Treatment Options for Fahr's Disease?

There is no cure for Fahr's Disease, but many symptoms can be managed effectively. The goal of treatment is to reduce discomfort, slow progression, and support day-to-day function.

Treatment plans are personalized and may require input from multiple specialists including neurologists, psychiatrists, and physiotherapists.

Common treatments include

Medications for movement symptoms such as tremors, stiffness, or muscle spasms (e.g., levodopa, baclofen)
Anticonvulsants for seizure control
Antidepressants or antipsychotics to manage mood swings, depression, or hallucinations
Calcium and vitamin D correction if caused by parathyroid dysfunction
Physical therapy to maintain strength and balance
Occupational therapy for daily living tasks like eating or dressing
Speech therapy if communication or swallowing becomes difficult
Cognitive therapy or memory support in cases of mental decline
Supportive care and lifestyle adjustments like regular exercise, fall prevention, and brain stimulation activities can also improve quality of life.