Fahr’s Disease

Fahr’s disease is a rare genetically dominant neurological disorder. In Fahr’s disease deposition of calcium occurs in various parts of the brain that result in progressive loss of motor and mental functions.

Age/sex prevalence of Fahr's disease
Fahr’s disease can occur at any time in childhood or adult age but typical age of onset is between 40 and 50 years of age.
Cause of Fahr's disease
A mutation has been reported in the gene encoding the type III sodium dependent phosphate transporter 2 located on chromosome 8. Biochemical evidence shows that phosphate transport may be involved in the development of the disease.
Signs and symptoms of Fahr's disease
• Poor motor function
• Dementia
• Headache
• Seizure
• Stiff limbs
• Poorly articulated speech
• Involuntary writhing movements
• Eye impairment
• Spastic paralysis
Investigations of Fahr's disease
• CT scan
• CSF examination
• Ellsworth Howard test
• Serology for toxoplasmosis
Treatment
• Treatment aims at symptomatic control.
• Genetic counselling may be helpful.
Prognosis of Fahr's disease
Prognosis for Fahr’s disease varies and difficult to predict.
Complications of Fahr's disease
• Retinitis pigmentosa
• Optic atrophy
• Demyelination
• Intracranial calcification
• Brain failure
• Parkinsonism
• Hypoparathyroidism
• Increased intraocular pressure

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