What is Fahrs Disease?

Written by Medicover Team and Medically Reviewed by Dr K Suresh , Neurologist

Fahr's Disease is a rare brain disorder where calcium builds up in certain parts of the brain, mostly in the basal ganglia. This abnormal buildup can affect movement, thinking, and mood. It often runs in families and usually shows up in adulthood, though some cases appear earlier.

The condition is also known as Primary Familial Brain Calcification or Idiopathic Basal Ganglia Calcification.

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 Types of Fahr's Disease?

Fahr's Disease can occur in different forms depending on the underlying cause. Understanding the type can help guide diagnosis and family testing.

Familial Fahr's Disease

This is the most common type. It runs in families and is passed down from parent to child. If one parent has the gene, the child can inherit it too. A family history is often seen.

Sporadic Fahr's Disease (Fahr's Syndrome)

This type happens without any family link. It may be caused by problems like hormone issues, infections, or immune system disorders. When it's due to another illness, it's called Fahr's Syndrome.

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.

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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.

When to See a Doctor?

Because Fahr's Disease may progress slowly and symptoms can be mistaken for other conditions like Parkinson's or dementia, it's important to seek medical advice if anything feels unusual.

You should see a doctor if

You experience new tremors or stiffness without injury
You or a family member has unexplained seizures
There's memory loss, personality changes, or unusual mood swings
You've had a CT scan that showed calcification in the brain
Someone in your family has been diagnosed with Fahr's Disease or basal ganglia calcification

Early diagnosis helps avoid misdiagnosis and provides the best chance for managing symptoms before they worsen.

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Recovery and Outlook

Fahr's Disease is progressive, meaning symptoms may slowly worsen over time. However, the speed of progression is different for everyone. Some people remain stable for years with mild issues, while others need full-time care.

The long-term outlook depends on

Age of onset
Severity of symptoms
Rate of progression
Response to treatment
Presence of other health problems

While there is no cure, symptom control, regular checkups, and a strong care plan can help patients live meaningful, active lives.

Can Fahr's Disease Be Prevented?

There is no known way to prevent familial Fahr's Disease since it is usually inherited. However, early awareness can help with planning and support.

Prevention tips for related conditions include

Getting screened if there's a family history
Monitoring calcium and hormone levels
Managing autoimmune or metabolic disorders
Staying mentally and physically active
Seeing a neurologist early if symptoms develop
Genetic counseling can also help at-risk families understand the condition and plan for the future.

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At Medicover, our experienced neurologists and care teams provide full support for rare brain disorders like Fahr's Disease. From advanced CT imaging to personalized therapy and long-term care planning, we focus on improving your comfort and function.

Whether you're newly diagnosed or seeking better symptom control, we are here for you every step of the way.

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