Case 5 History ---- The patient was a 5 year old female with a progressive familial dystonia. At 24 months of age she was evaluated for vertical nystagmus, right greater than left. The impression was spasmus nutans. She was readmitted 4 months later with a history of clumsiness, left head tilt, and inturning of her left foot. In addition to the vertical nystagmus, a mild right ptosis was noted. Since that admission she was described as having poor coordination and inability to run without falling or to perform fast movements. Her speech had always been slightly unclear. These problems had been present since early infancy but had become more severe with age. Despite these difficulties, there had been no loss of previously acquired milestones. Extraocular movements were intact with bilateral vertical nystagmus. She could hear whispered commands bilaterally, the palate was normal, and the gag reflex was intact. The tongue protruded in the midline. Sensory examination was intact to light touch and to pinch. Motor examination revealed hypotonia with a superimposed dystonic posturing. An extensive laboratory evaluation failed to identify the etiology of her disease. A neuroophthalmologic consultation was obtained and it was thought that the eye movement disorder might well be separate and distinct from the basal ganglia degeneration. Terminally, she apparently vomited, aspirated and expired.
