Paralysis Agitans, Juvenile, Of Hunt

Clinical Features

Ramsey Hunt (1917) described a disorder with typical parkinsonism beginning in the teens or earlier, with tremor, masklike facies, bradykinesia, dysarthria, and rigidity. Progression was very slow. David B. Clark had seen the disorder in father and daughter (Ford, 1961). The substantia nigra was normal, but degeneration and loss of large cells of the lenticular nuclei occurred. Hunt's second case was the offspring of first cousins. She died at the age of 65 years. Autopsy showed pallidopyramidal disease (PARK15; 260300).

Allen and Knopp (1976) observed a family with 3 affected females: the proband, her paternal grandmother, and her sister's daughter. The proband's father had died at age 34 years. A disorder of gait ('walking on the ball of the foot') started in the proband at age 6 years and tremor in the hands at age 10. Achilles tenotomy was performed at age 11. In her 30s, striking improvement occurred with L-DOPA and anticholinergic medication. The paternal grandmother had onset of tremors at age 13 years. Flexion dystonia of the fingers and fixed facial expression were evident by age 54. She became immobile and bedridden after age 64 and died at age 80. The niece, aged 15 at time of report, showed dystonic movements of the right hand and a longstanding disturbance of gait. L-DOPA effected improvement. Martin et al. (1971) described patients with 'juvenile parkinsonism,' who, like the patients reported by Allen and Knopp (1976), may in fact, have had dopa-responsive dystonia (128230). Pathologic findings were reported by Hunt (1917) and by van Bogaert (1930).