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22 Possible Causes for Generalized Spike-and-Slow-Waves, Hyperreflexia, Mild Cerebellar Hypoplasia

  • West Syndrome

    Lennox-Gastaut Syndrome: LGS is characterized by multiple types of seizures and an abnormal EEG with generalized slow spikewave discharges.[cdkl5.com] […] difficulties Swallowing difficulty [ more ] 0002015 Dyspnea Trouble breathing 0002094 Dystonia 0001332 Epileptic encephalopathy 0200134 Generalized myoclonic seizures 0002123 Hyperreflexia[rarediseases.info.nih.gov] 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]

  • 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] : Clinical features Age of onset - 43-56 years Slow progression Gait and limb ataxia Dysarthria Occular dysmetria Slow saccades Decreased vibratory sense below the knees Hyperreflexia[emedicine.medscape.com] […] 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]

  • 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] Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia[web.archive.org] Cerebellar hypoplasia Seizures Pathophysiology [ edit ] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often[en.wikipedia.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] […] coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia[rarediseases.info.nih.gov] […] 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]

  • Spastic Ataxia with Congenital Miosis

    Hyperventilation during EEG reveals a generalized 3 Hz spike and wave on normal background.[quizlet.com] Hyperreflexia suggests an upper motor neuron dysfunction. Hyperreflexia usually has a positive Babinkski's sign and spasticity .[wikidoc.org] hypoplasia, growth retardation, mild–moderate mental retardation, hypotonia, demyelinating neuropathy, seizures, hypogonadism, and skeletal abnormalities including kyphoscosiosis[nature.com]

  • 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] : Clinical features Age of onset - 43-56 years Slow progression Gait and limb ataxia Dysarthria Occular dysmetria Slow saccades Decreased vibratory sense below the knees Hyperreflexia[emedicine.medscape.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]

  • 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] Miscellaneous  Labs  Gene map locus 19q13.3- q13.4  Ataxia legs Arms  dysarthria  nystagmus  motor dysfunction  poor running  inability to walk by 4-6th decade  hyperreflexia[slideshare.net] […] complex generalized synchronous pattern seen on electroencephalogram, consisting of a sharply contoured fast wave followed by a slow wave; seen in generalized epilepsy spina[strokecenter.org]

  • Ehlers-Danlos Syndrome with Periventricular Heterotopia

    Yes16 Sheen, 2005 F, 25 N.A. 17 Generalized(catamenial)Excessive slow wave activity N.A. N.A. Yes17 Sheen, 2005 F, 53 N.A. Epilepsy sincechildhoodN.A. N.A. N.A. N.A.[docslide.com.br] Female carriers have hyperreflexia.[chginc.org] Three unrelated boys with a new multiple congenital anomaly‐mental retardation syndrome consisting of PNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spinocerebellar Ataxia 3

    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] Definition A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia.[uniprot.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]

  • Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

    […] 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] […] present family, two of the four patients showed hyperreflexia and Babinski sign, and one patient showed spasticity in addition to hyperreflexia and Babinski sign.[ams.ac.ir] hypoplasia Pica Cerebellar vermis atrophy Microcephaly Broad-based gait Cerebral palsy Rare Symptoms - Less than 30% cases Focal seizures Behavioral abnormality Developmental[mendelian.co]

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