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Results 11 - 20 of 50 for myoclonus
  1. NHLRC1 gene 
    ... 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 malin ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  2. CSTB gene 
    ... promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene. 2000 Jan 25;242(1- ... lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet. 2005 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. SCARB2 gene 
    ... the SCARB2 gene have been associated with action myoclonus–renal failure (AMRF) syndrome. This rare condition causes ... particularly when trying to make intentional movements (action myoclonus). Another common feature of AMRF syndrome is kidney ( ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  4. PRICKLE1 gene 
    ... been identified in people with PRICKLE1-related progressive myoclonus epilepsy with ataxia. Each mutation changes a single ... and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/prickle1 - Genetics
  5. Myoclonic epilepsy with ragged-red fibers 
    ... same family.MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the ... Raskin S, Werneck LC, Bruhn H. Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. Mov ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  6. Hereditary hyperekplexia 
    ... can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while ... down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, ...
    https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia - Genetics
  7. Ataxia with oculomotor apraxia 
    ... have involuntary jerking movements (chorea) or muscle twitches (myoclonus); these movement problems tend to disappear over time. ... type 1, affected individuals may have chorea or myoclonus, although these movement problems persist throughout life in ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  8. CLN1 disease 
    ... individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected ... older individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. In these individuals, life ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  9. MT-TS1 gene 
    ... these cases, affected individuals typically have muscle twitches (myoclonus), muscle weakness (myopathy), difficulty coordinating movement (ataxia), hearing ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  10. Familial encephalopathy with neuroserpin inclusion bodies 
    ... episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear ...
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
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