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Results 1 - 8 of 8 for Progressive myoclonus epilepsy with ataxia
  1. ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
  2. ... same family.MERRF is characterized by muscle twitches (myoclonus), weakness ... movements (ataxia), a loss of sensation in the extremities (peripheral ...
  3. ... 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 ...
  4. ... typically after age 30. These individuals can have epilepsy, ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 disease usually does ...
  5. ... 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, ...
  6. ... 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 ...
  7. ... involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disabilities, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most ...
  8. ... seizures that do not improve with treatment (intractable epilepsy), loss of ... (ataxia) and disturbances in nerve function (neuropathy). Neuropathy can ...