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15 Possible Causes for Generalized Spike-and-Slow-Waves, Mild Cerebellar Hypoplasia, Muscle Twitch

  • Unverricht-Lundborg Syndrome

    Slow ( 2.5 Hz) electroencephalographic spike and wave discharges in atypical absence epilepsy (ie, Lennox-Gastaut syndrome). Spike, generalized.[emedicine.medscape.com] twitches, which often were painful, caused anxiety, and reminded Lundborg of clonic, tonic-clonic, or tetanic seizures ( Puschmann 2009 ).[medlink.com] hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net]

  • Benign Adult Familial Myoclonic Epilepsy

    , high-amplitude spike and slow-wave complexes 3.5 Hz, typically 4 s duration.  Absence seizures in JAE are more sporadic.  EEG is slightly faster with generalized spike[slideshare.net] Signs and symptoms [ edit ] Myoclonic seizures involve brief involuntary muscle twitching, and may become frequent enough to be disabling.[en.wikipedia.org] hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net]

  • West Syndrome

    Lennox-Gastaut Syndrome: LGS is characterized by multiple types of seizures and an abnormal EEG with generalized slow spikewave discharges.[cdkl5.com] Magnetic resonance imaging of the brain revealed mild cerebral and cerebellar atrophy, high-signal-intensity areas in the white matter, and hypoplasia of the corpus callosum[ncbi.nlm.nih.gov] Interictal EEG displays diffuse and asynchronous high voltage spikes and slow waves suggesting the hypsarrhythmic pattern. B.[bmcneurol.biomedcentral.com]

  • Angelman Syndrome

    EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges.[ncbi.nlm.nih.gov] Cerebellar hypoplasia Seizures Pathophysiology [ edit ] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often[en.wikipedia.org] (a) Generalized burst of spike and spike waves with high amplitude, prevalent in the anterior regions, (b) Very slow background activity mixed with multifocal spikes.[ijponline.biomedcentral.com]

  • Neuronal Ceroid Lipofuscinosis

    EEG revealed frequent generalized spikes, polyspikes, and waves, prominent on awakening and during photic stimulation without significant change throughout the clinical course[ncbi.nlm.nih.gov] Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development.[ncbi.nlm.nih.gov] cerebellar ataxia and white matter edema Leukonychia totalis Leukotriene C4 synthase deficiency Levine-Critchley syndrome Levy-Hollister syndrome Lewandowsky-Lutz syndrome[csbg.cnb.csic.es]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left.[academic.oup.com] The episodes are triggered by stress, being startled or sudden movement, and often are associated with muscle twitching.[mayoclinic.org] […] ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening and gyral simplification[ajnr.org]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left.[academic.oup.com] […] of muscles or parts of muscles, without any rhythm or pattern, occurring in various brain disorders) 19q SCA16 39 yrs (20-66) 1-40 years Head and hand tremor 8q SCA17 ( TBP[psychology.wikia.com] cerebellar hypoplasia or vermian aplasia • Joubert syndrome – absence of cerebellar vermis and “molar tooth sign” at cerebellar & mid brain junction • Fragile X associated[slideshare.net]

  • Spastic Ataxia with Congenital Miosis

    Hyperventilation during EEG reveals a generalized 3 Hz spike and wave on normal background.[quizlet.com] Muscle findings of only fasiculations and the workup of such* Definition Muscle twitching is caused by minor muscle contractions in the area, or uncontrollable twitching of[flashcardmachine.com] hypoplasia, growth retardation, mild–moderate mental retardation, hypotonia, demyelinating neuropathy, seizures, hypogonadism, and skeletal abnormalities including kyphoscosiosis[nature.com]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] epilepsy (with mixed seizures, especially tonic, myoclonic and atypical absence), and a characteristic pattern of slow, generalized spike-and-wave activity on the electroencephalogram[strokecenter.org] cerebellar hypoplasia or vermian aplasia • Joubert syndrome – absence of cerebellar vermis and “molar tooth sign” at cerebellar & mid brain junction • Fragile X associated[slideshare.net] […] in a visible twitch of all the muscle fibers it contacts; indicative of denervation festination an involuntary tendency to take short accelerating steps in walking that can[strokecenter.org]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    slow spike-and-wave discharges Affected LGS patients have different degrees of developmental delay and they often develop autism and intellectual disability 43 Patients react[centogene.com] […] of muscles or parts of muscles, without any rhythm or pattern, occurring in various brain disorders) 19q SCA16 ( ITPR1 ) 39 yrs (20–66) 1–40 years Head and hand tremor 8q[en.wikipedia.org] […] ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening and gyral simplification[ajnr.org]

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