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27 Possible Causes for Myoclonic Jerking, Severe Mental Retardation in Some Patients

  • Dravet Syndrome

    As the affected children grow up, they develop myoclonic jerking, and their seizures may become refractory to treatment. Synonym: severe myoclonic epilepsy of infancy[medical-dictionary.thefreedictionary.com] In severe cases, patients may present with profound neurological deficit including hypotonia, seizures and mental retardation.[ncbi.nlm.nih.gov] Generalized ictal myoclonic jerks: The generalized ictal myoclonic jerks are always preceded by clear-cut spike-wave discharges.[icnapedia.org]

  • Aicardi's Syndrome

    Asymmetric myoclonic jerks developed at one month of age.[ncbi.nlm.nih.gov] There is a wide range of severity in this disorder as only some patients have seizures, and, while some have significant mental retardation, others can function at a near[disorders.eyes.arizona.edu] Each patient exhibits some form of psychomotor impairment and varying degrees of mental retardation.[neurology.org]

  • Lennox-Gastaut Syndrome

    In such cases, massive myoclonic jerks, myoclonic-atonic attacks, as well as atonic seizures may occur, though much less frequent and severe than the other manifestations.[epilepsyontario.org] […] degree of mental retardation at the first visit, whereas 99% exhibited mental retardation at the final follow‐up visit. 12 Four independent risk factors for severe cognitive[onlinelibrary.wiley.com] Lennox and Davis first correlated the slow spike-and-wave EEG pattern with a distinctive group of clinical manifestations including specific seizure types (myoclonic jerks[medlink.com]

  • Rasmussen Syndrome

    However, the clinical history of myoclonic jerks was indicative of SSPE in our patient.[smj.org.sg] Untreated, the disorder may lead to severe neurological deficits including mental retardation and paralysis. In some patients the surgery decreases the seizures.[medicinenet.com] Juvenile Myoclonic Epilepsy People with juvenile myoclonic epilepsy (JME) have myoclonic seizures, characterized by small, rapid jerks of the arms, shoulders, or occasionally[hopkinsmedicine.org]

  • Ataxia

    Patient 2 initially presented with an increased startle response and myoclonic jerks, and subsequently developed severe limb and gait ataxia, dysarthria, oculomotor disturbances[ncbi.nlm.nih.gov] […] have seizures and mild mental retardation.[pn.bmj.com] jerks.[ncbi.nlm.nih.gov]

  • Continuous Spike-and-Slow-Waves during Sleep

    Many children will have absence (blank) seizures, some myoclonic (jerk) seizures and others will have focal (partial) motor seizures (seizures involving jerks of one side[epilepsy.org.uk] Some patients remain mentally retarded even after the remission of the seizures. 45 – 47 Status epilepticus of BECTS SEBECTS refers to status epilepticus that can be convulsive[j-epilepsy.org] .  Triad of  Polymorphic intractable seizure that are mainly tonic (80%), atonic (50%)and atypical absence seizures (70%), Myoclonic Jerks(11–28%).  Cognitive and behavioural[slideshare.net]

  • Congenital Muscular Dystrophy

    All patients suffered from convulsions, and two presented with myoclonic jerks. The head circumference developed normally with only one exception.[doi.org] […] calf hypertrophy, microcephaly, and mental retardation.[ncbi.nlm.nih.gov] mental retardation and epilepsy are extremely frequent.[healio.com]

  • D-Glyceric Aciduria

    jerks ,and progressing to apnea, and often to death.[wikidoc.org] Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype[malacards.org] Classification Classic neonatal form or classic form Most patients with GCE have the neonatal phenotype, presenting in the first few days of life with lethargy, hypotonia, and myoclonic[wikidoc.org]

  • Mitochondrial DNA Depletion Syndrome Type 1

    Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks.[en.wikipedia.org] MYTH An individual with mitochondrial disease has mental retardation, growth problems, and/or seizures. FACT Only some individuals have these developmental problems.[my.clevelandclinic.org] Patients’ symptoms can range from extremely mild to severe, involve one or more body systems, and can emerge at any age.[my.clevelandclinic.org]

  • Pitt-Hopkins Syndrome

    He receives sodium valproate and clobazam for the myoclonic jerks with satisfactory results.[ncbi.nlm.nih.gov] Mowat-Wilson syndrome resembles PTHS, and common features are severe mental retardation and some similarities in facial features.[ncbi.nlm.nih.gov] The authors have personal experience with an adult PTHS patient carrying a missense mutation who has myoclonic jerks occuring after falling asleep.[ncbi.nlm.nih.gov]

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