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2,105 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Severe Hypotonia

  • Neuronal Ceroid Lipofuscinosis

    Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal[ncbi.nlm.nih.gov] Hypotonia-cerebral atrophy-hyperglycinemia syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis - congenital ichthyosis Hypotrichosis - lymphedema[csbg.cnb.csic.es] , epilepsy and the accumulation of an autofluorescent lipopigment in neurones and other cells.[ncbi.nlm.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] These children then begin to demonstrate hyperirritability, hypotonia, myoclonic jerks, and seizures. 1–3 By the age of 2 yr, severe visual deterioration and slow or absence[journals.lww.com] Synonyms Batten disease, Kuf disease Symtoms and course NCL are characterised by psychomotor deterioriation, visual failure, and the accumulation of autofluorescent lipopigment[alzheimer-europe.org]

    Missing: Arrhythmias Detected Prenatally
  • Congenital Muscular Dystrophy

    hypotonia due to the absence of the merosin chain around muscle fibers.[ncbi.nlm.nih.gov] Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range METHODS AND RESULTS: Next generation and Sanger sequencing were performed[ncbi.nlm.nih.gov] Severe hypotonia and associated respiratory failure may occur early in the disease process.[ncbi.nlm.nih.gov]

    Missing: Arrhythmias Detected Prenatally Autofluorescent Lipopigment in Neurons
  • Northern Epilepsy

    autofluorescent lipopigment 0002074 Myoclonus 0001336 Seizures Seizure 0001250 Showing of 19 Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can[rarediseases.info.nih.gov] These occur in approximately 50-70% of individuals with TSC, and are most frequently detected prenatally or in the neonatal period.[clinicaladvisor.com] Gene PGAP2 gene, 11p15.4 (OMIM gene/locus number #615187 ) Phenotype Delayed psychomotor development, severe mental retardation, intellectual disability mild (in some patients[iofbonehealth.org]

  • Neonatal Adrenoleukodystrophy

    All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa.[ncbi.nlm.nih.gov] Moderate to severe hypotonia and liver hypertrophy are also described.[ela-asso.com] The disease has its onset in the neonatal period with severe hypotonia and seizures. Hepatomegaly may be present.[link.springer.com]

    Missing: Arrhythmias Detected Prenatally Autofluorescent Lipopigment in Neurons
  • Glycogen Storage Disease Type 2

    Lipofuscin is an autofluorescent lipopigment, which is composed of highly cross-linked undegradable protein aggregates, lipids, carbohydrates, and metals (particularly iron[ncbi.nlm.nih.gov] Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com] hypotonia associated with hypertrophic cardiomyopathy; death from heart and respiratory failure may occur during the first year of life Late onset form: progressive muscle[pathologyoutlines.com]

    Missing: Arrhythmias Detected Prenatally
  • Familial Infantile Myoclonic Epilepsy

    […] recessive disorders (9 known subtypes) with accumulation of autofluorescent lipopigment Clinical features: Triad: cognitive/motor decline, visual loss, progressive myoclonic[emilytam.com] Delay can range from mild (rare) to moderate/severe (common), and most adult patients are dependent on caregivers (Catarino 2011).[rarediseases.org] NCLs are a group of inherited neurodegenerative lysosomal storage disorders that result in defective sphingolipid synthesis and the accumulation of autofluorescent ceroid[invitae.com]

    Missing: Arrhythmias Detected Prenatally
  • Benign Familial Infantile Epilepsy Type 4

    […] recessive disorders (9 known subtypes) with accumulation of autofluorescent lipopigment Clinical features: Triad: cognitive/motor decline, visual loss, progressive myoclonic[emilytam.com] Delay can range from mild (rare) to moderate/severe (common), and most adult patients are dependent on caregivers (Catarino 2011).[rarediseases.org] Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal.[omim.org]

    Missing: Arrhythmias Detected Prenatally
  • Atypical Glycine Encephalopathy

    NCLs are a group of inherited neurodegenerative lysosomal storage disorders that result in defective sphingolipid synthesis and the accumulation of autofluorescent ceroid[invitae.com] “Nonketotic hyperglycinemia,” or “glycine encephalopathy,” on the other hand, was characterized by lethargy, hypotonia, unresponsiveness, seizures, and severe mental retardation[medlink.com] Neurological examination showed severe head lag, generalized hypotonia, subnormal muscle power and brisk tendon reflexes.[cags.org.ae]

    Missing: Arrhythmias Detected Prenatally
  • Congenital Muscular Dystrophy due to LMNA Mutation

    […] form of disease, characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common[centogene.com] Affected individuals have developed severe intellectual disability, hypotonia, developmental delays, mild contractures, and muscle weakness and degeneration (atrophy).[rarediseases.org] The degree of muscular or central nervous system involvement is variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications[invitae.com]

    Missing: Arrhythmias Detected Prenatally Autofluorescent Lipopigment in Neurons

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