PMC4884265_01
PMC4884265_02
PMC4884265_03
Segment 1. Sister at Presentation, Age 11. This video demonstrates cervical dystonia and dystonic tremor, no dysmetria on the finger-to-nose test, left arm dystonia while writing, a narrow-based, steady gait, and normal tandem gait. Segment 2. Sister Post Treatment, Age 13.5. Treatment consisted of vitamin E (inconsistently for 10 months) and trihexyphenidyl (for 2.5 years). This video demonstrates intermittent head tremor, cervical dystonia, and no dysmetria on reaching, which was stable from the prior segment. There is subtle gait ataxia with impaired tandem gait.. Segment 1. Brother at Presentation, Age 14.5. This video demonstrates irregular head tremor at rest and dystonia of the neck, upper limb, and trunk that increases during reaching. There is subtle intention tremor on finger-to-nose test. Gait is normal-based and steady, with generalized dystonia, particularly involving the right shoulder, left arm, and both lower limbs. Segment 2. Brother 18 Months after Presentation, Age 16. Eighteen months after presentation, the patient has a broad-based, unsteady gait and dysdiadochokinesia. Generalized dystonia is unchanged. Segment 3. Brother Post Treatment, Age 17. Treatment consisted of vitamin E (for 10 months) and trihexyphenidyl (for 2.5 years). The patient's dysdiadochokinesia has improved significantly. He has residual upper limb dysmetria on the finger-to-nose test. Gait ataxia and generalized dystonia were unchanged.
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PMC4884265_03_.jpg
v01
Initial investigations, including serum copper, ceruloplasmin, alpha-fetoprotein, serum and cerebrospinal fluid lactate concentrations, and brain magnetic resonance imaging were all normal (Figure 1).