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Results 1 - 10 of 12 for Progressive myoclonus epilepsy with ataxia
  1. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  2. PRICKLE1 gene 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/genetics/gene/prickle1 - Genetics
  3. Myoclonic epilepsy with ragged-red fibers 
    ... same family.MERRF is characterized by muscle twitches (myoclonus), weakness ... movements (ataxia), a loss of sensation in the extremities (peripheral ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  4. Progressive myoclonic epilepsy type 1 
    ... vary, even among members of the same family. Progressive myoclonus epilepsy is a rare group of conditions. Progressive myoclonic ... Unverricht and Lundborg PME Progressive myoclonic epilepsy 1A Progressive myoclonus epilepsy type 1 ULD Unverricht-Lundborg syndrome Genetic Testing ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  5. MT-TS1 gene 
    ... M, Muller-Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  6. CLN6 disease 
    ... typically after age 30. These individuals can have epilepsy, ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 disease usually does ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics
  7. CLN2 disease 
    ... 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  8. MT-TL1 gene 
    ... in a few people with features of myoclonic epilepsy with ragged-red fibers ... (ataxia), hearing loss, seizures, and diabetes.Mutations that cause ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  9. MT-TK gene 
    ... MERRF). This condition is characterized by muscle twitches (myoclonus), recurrent seizures (epilepsy), abnormal muscle cells known as ragged-red fibers, ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  10. CLN11 disease 
    ... adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.Seizures in ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics
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