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Paroxysmal dyskinesia
- ... LY, Fu YH, Ptacek LJ. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and ... Fu YH, Ptacek LJ. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet. ...
- ... P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA- ...
- Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by ...
- ... develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more ... Huntington's disease (36 repeats or more). Huntington chorea Huntington chronic progressive hereditary chorea Huntington disease Huntington' ...
- ... Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus ...
- ... Such cases are sometimes called isolated benign hereditary chorea.Nearly everyone with brain-lung-thyroid syndrome has brain-related movement abnormalities. Benign hereditary chorea is the most common feature of the syndrome. ...
- ... novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3): ... ADCY5 mutations are another cause of benign hereditary chorea. Neurology. 2015 Jul 7;85(1):80-8. ...
- ... develop involuntary jerking or twitching movements known as chorea. Over time, these abnormal movements worsen. Affected individuals ... Huntington's Disease Look-Alikes, and Benign Hereditary Chorea: What's New? Mov Disord Clin Pract. 2016 ...
- ... apraxia, affected individuals can have involuntary jerking movements (chorea) or muscle twitches (myoclonus); these movement problems tend ... As in type 1, affected individuals may have chorea or myoclonus, although these movement problems persist throughout ...
- ... ears (tinnitus), hearing loss, episodes of abnormal movements (paroxysmal kinesigenic dyskinesia), or psychiatric disorders. However, it is unclear whether ...