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Palatal myoclonus in Krabbe disease
H Yamanouchi1, H Kasai, N Sakuragawa
1Division of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo.
Brain & Development
|September 1, 1991
Summary
This case report details a seven-year-old girl with Krabbe disease experiencing palatal myoclonus. The symptoms, including rhythmic contractions, ceased during sleep, highlighting a unique presentation of this rare neurological disorder.
Area of Science:
- Neurology
- Pediatric Neurology
- Genetics
Background:
- Krabbe disease is a rare, fatal lysosomal storage disorder affecting the nervous system.
- Palatal myoclonus is characterized by involuntary, rhythmic contractions of the palate.