Fahr's Syndrome - Clinical Features

Clinical Features

The disease usually manifests itself in the third to fifth decade of life but may appear in childhood or later in life. It usually presents with clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements or muscle cramping. Seizures of various types are common. Neuropsychiatric symptoms, which may be the first or the most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.

The diagnosis requires:

1. the presence of bilateral calcification of the basal ganglia
2. the presence of progressive neurologic dysfunction
3. the absence of an alternative metabolic, infectious, toxic or traumatic cause
4. a family history consistent with autosomal dominant inheritance

The calcification is usually identified on CT scan but may be visible on plain films of the skull.