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 brain that results 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 year 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 involves 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 of Fahr's disease
:
• Treatment aims at symptomatic control.
• Genetic counseling 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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