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myoclonus
- Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although ...
- Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle ...
- Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and ...
- PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. ...
- ... experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, ...
- ... have been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single protein ... lead to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of laforin ...
- ... I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this ... with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. ...
- ... with hyper IgE and cognitive impairment Immunodeficiency-vasculitis-myoclonus syndrome PGM3 deficiency PGM3-CDG PGM3-related congenital ...
- Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood ...
- ... the SGCE gene have been found to cause myoclonus-dystonia, which is a movement disorder characterized by ... muscle twitches in the neck, torso, and arms (myoclonus). Most of these mutations lead to an abnormally ...
