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78 Possible Causes for Abnormal Spikes, Global Hypotonia

  • West Syndrome

    A 5 year-old boy exhibited global hypotonia with generalized muscle weakness from birth.[ncbi.nlm.nih.gov] The patient was followed up to 13 years of age, and at the last examination was shown to have severe speech delay, seizures, and continuous spike-and-wave activity on EEG.[ncbi.nlm.nih.gov] His MRI also picked up that his brain wasn't quite fully formed at the front and sides and this had resulted in him having global developmental delay and hypotonia (floppy[netmums.com]

  • Generalized Clonic or Tonic-Clonic Seizures

    Jerk-locked premyoclonus spikes Hand tremor Neuronal loss in central nervous system Cutaneous photosensitivity Hyperreflexia Heterogeneous Weight loss Dystonia Splenomegaly[mendelian.co] EEG abnormalities are more likely or increased with sleep deprivation and during sleep.[epilepsy.com] […] symptoms that defines a distinctive, identifiable clinical disorder Highest level of diagnostic specificity Examples: West syndrome , benign epilepsy with centrotemporal spikes[amboss.com]

  • Encephalopathy

    Structural abnormalities can often be seen on cranial MRI.[orpha.net] We describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly[ncbi.nlm.nih.gov] Global developmental delay can be evident by this age or the patients may present with encephalopathy or hypotonia. 2 , 7 , 8 Classification by age of onset into an early[pediatrics.aappublications.org]

  • Panayiotopoulos Syndrome

    The EEG in children with PS who are not being treated with seizure medications shows abnormal spikes in one or both occipital lobes.[epilepsy.com] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] DIAGNOSTIC TESTS: An electroencephalogram is the only investigation with abnormal results, usually showing multiple spikes in various brain locations.[ncbi.nlm.nih.gov]

  • Familial Infantile Myoclonic Epilepsy

    Diagnosis The electroencephalogram (EEG) test, which records the electrical activity in the brain, shows evidence of abnormal discharges of spikes and waves, or polyspikes[epilepsy.org.uk] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] Called benign infantile focal epilepsy with midline spikes and waves during sleep, these infants have few seizures and there may often be a family history. [2] References[en.wikipedia.org]

  • Benign Familial Infantile Epilepsy

    Called benign infantile focal epilepsy with midline spikes and waves during sleep, these infants have few seizures and there may often be a family history.[en.wikipedia.org] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] The results often show anterior temporal spike or sharp waves, which can occur in both wakefulness and/or sleep.[epilepsy.com]

  • Familial Recurrent Peripheral Facial Palsy

    […] and waves during sleep Contractures-ectodermal dysplasia-cleft lip/palate syndrome Corneal-cerebellar syndrome Cornelia de Lange syndrome Corpus callosum agenesis-abnormal[se-atlas.de] […] developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-osteopenia-ectodermal defect syndrome Global[orpha.net] […] lipofuscinosis Congenital non-communicating hydrocephalus Congenital or early infantile CACH syndrome Congenital sialidosis type 2 Congenital trigeminal anesthesia Continuous spikes[se-atlas.de]

  • Early Infantile Epileptic Encephalopathy 18

    The EEG in babies not treated with medications is very abnormal with a burst suppression pattern (high amplitude spikes followed by little brain activity or flattening of[epilepsy.com] - Between 80% and 100% cases Global developmental delay Common - Between 50% and 80% cases Generalized hypotonia Common - Between 50% and 80% cases Hypsarrhythmia Common -[mendelian.co] Structural abnormalities can often be seen on cranial MRI.[orpha.net]

  • Ohtahara Syndrome

    The EEG test, which records the electrical activity in the brain, is usually abnormal and shows evidence of abnormal discharges, or spikes and waves alternating with periods[epilepsy.org.uk] Results: In all 6 patients, global developmental delay and hypotonia were present from infancy, with onset of chorea around age 3-4 years.[mdsabstracts.org] The EEG in babies not treated with medications is very abnormal with a burst suppression pattern (high amplitude spikes followed by little brain activity or flattening of[epilepsy.com]

  • Hereditary Hyperekplexia

    […] activity other than a spike in wakefulness or alertness, while the electromyogram will show rapid muscular responses and hyperreflexia.[en.wikipedia.org] One patient, belonging to a consanguineous family, suffered from global developmental delay, hypotonia followed by hypertonia, seizures, repetitive hand movements, startle[cags.org.ae] […] electroencephalogram and an electromyogram may help diagnose this condition in patients who have not displayed symptoms as children. the electroencephalogram will not show abnormal[en.wikipedia.org]

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