INFORMATION ON FAHR’S SYNDROME

Fahr’s Syndrome is a unusual, genetically dominant, present at birth neurological disorder characterized by atypical deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex.

SYMPTOMS OF FAHR’S SYNDROME

Indications of the disorder may include deterioration of motor function, dementia, fits, headache, dysarthria (inadequately articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye injury, and athetosis (involuntary, writhing movements).

Fahr’s Syndrome may also include symptoms feature of Parkinson disease such as vibrations, muscle rigidity, a mask-like facial appearance, shuffling gait, and a “pill-rolling” motion of the fingers. These indications usually occur later in the growth of the disease.

More general symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is naturally in the 40s or 50s, though it can happen at any time in childhood or adolescence.

CAUSES OF FAHR’S SYNDROME

Basal ganglia calcification may be seen as an incidental finding as in the index case. Greater part of basal ganglia calcification is idiopathic in nature and disturbances of calcium metabolism are so unusual that biochemical testing is performed only if indicated by other features. Other causes include metabolic diseases (hypothyroidism, pseudohypothyroidism), mitochondrial cytopathy, and transmittable diseases such as cytomegalovirus, Epstein-Barr virus, toxoplasmosis, tuberculosis and acquired immunodeficiency syndrome. The calcification seen in infectious diseases is typically asymmetric and not controlled to basal ganglia. Basal ganglia calcification may be seen in familial form (Fahr’s syndrome).

Radiologically, calcification may sometimes be observed on plain radiographs, and is normally revealed by non-contrast computed tomography of head. However, MR imaging may show much more general increased signal on T1-weighted images than revealed by CT. This is supposed to be due to T1 shortening in the hydration shells enclosing microscopic deposits

TREATMENT OF FAHR’S SYNDROME

There is no treatment for Fahr’s Syndrome, nor is there a standard path of treatment. Treatment addresses symptoms on an individual basis.

The prognosis for any individual with Fahr’s Syndrome is changeable and hard to forecast. There is no dependable association between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be harmful in a gene carrier who is less than the age of 55.