Fahr’s Disease

Fahr’s Disease:

Also known as Idiopathic basal ganglia calcification. It is a Autosomal dominant inherited disorder, But no definite gene mutation for this disease is found. It shows genetical heterogenicity.

Abnormal calcium deposits in movement controlling areas of brain like basal ganglia, cerebral cortex. Most commonly affected area of brain is Globus palladium, part of lenticular nucleus.

Most of the clinical features are similar to parkinson’s disease but shows poor response to levodopa therapy.

Clinical features:

  1. Tremors and decreased motor functions.
  2. Psychosis
  3. Dementia
  4. Dysarthria
  5. Athetosis
  6. Spastic paralysis
  7. Seizures etc.,

Diagnostic criteria:

  1. Autosomal dominant inheritance.
  2. Bilateral calcification of basal ganglia.
  3. Progressive Neurological deficiency.
  4. Rule out other causes like metabolic, traumatic, infectious, toxic.

Management:

There is no definite management. Symptomatic treatment to be given. It shows poor response to levodopa therapy. Treatment with Bisphosphonates has shown some improvement.

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