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The patient has prominent right torticollis, left laterocollis, and shoulder elevation on the left. When holding his arms outstretched, he has mild dystonic posturing. Alternating hand movements are delayed, especially on the left. Finger-to-nose testing shows mild intention tremor. He has spasticity of the arms and legs with increased reflexes and a scissors-like gait. (MP4 7598 kb)
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Zittel, S., Nickel, M., Wolf, N.I. et al. “Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia. J Neurol 259, 2498–2500 (2012). https://doi.org/10.1007/s00415-012-6617-0
- Hereditary Spastic Paraplegia
- Elevated Creatine Kinase Level
- Junction Protein Connexin
- Segmental Dystonia