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16 Possible Causes for Pediatric Disorder, Presynaptic Defect at the Neuromuscular Junction

  • Infantile Botulism

    EMG studies were suggestive of presynaptic neuromuscular junction defect. Motor unit potentials were of small amplitude and brief duration with increased polyphasia.[pediatricneurologybriefs.com] This book gives clinicians the up-to-date, concise, and clinically relevant guidance they need to provide optimal care to children with these acute neurologic disorders.[books.google.ro] Pediatr Infect Dis J . 2000;19:584 Botulism is a potentially lethal neuroparalytic disorder caused by the toxins produced by Clostridium botulinum .[pedsinreview.aappublications.org]

  • Ptosis

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] Eye Disease Investigator Group), working with hundreds of kids' eye care experts nationwide to research eye disorders special training program developed by our pediatric[nemours.org] Pediatric ophthalmologist Pediatric oculoplastic service Pediatric neurologist Cardiologist (if mitochondrial disorder suspected) Surgery Congenital ptosis has physical, functional[eyewiki.org]

  • Smith Lemli Opitz Syndrome

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] Parents completed several questionnaires (Intake Demographic Form; Pediatric Sleep Questionnaire; Pediatric Daytime Sleepiness Scale).[ncbi.nlm.nih.gov] Zimmerman AW: Autism spectrum disorders, in Treatment of Pediatric Neurologic Disorders. Edited by Singer HS, Kossoff EH, Hartman AL, Crawford TO.[doi.org]

  • Paraneoplastic Neurologic Syndrome

    […] in defective neuromuscular transmission.[dl.ndl.go.jp] Pediatr Clin North Am. 2015; 62(3): 667-85. PubMed Panzer J, Dalmau J. Movement disorders in paraneoplastic and autoimmune disease.[arupconsult.com] NMO, or isolated optic neuritis (ON) or transverse myelitis (TM), but only rarely in adults with these disorders.[aetna.com]

  • Lambert Eaton Myasthenic Syndrome

    A c.923C T variant affecting an adjacent residue (p.Pro308Leu) produced a presynaptic neuromuscular junction defect and a dominant hereditary motor neuropathy in a second[ncbi.nlm.nih.gov] A literature review found 9 other pediatric cases of Lambert-Eaton myasthenic syndrome, 3 having associated malignancies, 2 with lymphoproliferative disorders and 1 with neuroblastoma[pediatricneurologybriefs.com] In adults MG is 10 times more frequent than LES, but it is sometimes difficult to distinguish the 2 disorders, clinically and electromyographically.[mayocliniclabs.com]

  • Parana Hard-Skin Syndrome

    Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] Eur J Pediatr. 1993 Feb;152(2):95-8.[thedoctorsdoctor.com] […] to postsynaptic defects.[ncbi.nlm.nih.gov]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] dominant [slow channel syndrome]) neuromuscular junction; not associated with antibodies to AChR; symptoms: usually begin in the neonatal period, ocular, bulbar, respiratory[neupsykey.com] Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[books.google.com] The purpose is to provide a comprehensive discussion that ultimately could help neuroradiologists better manage this important topic in pediatric neurology.[ajnr.org]

  • Congenital Myasthenic Syndrome

    Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] Cohn and Craig Campbell, Treating pediatric neuromuscular disorders: The future is now, American Journal of Medical Genetics Part A, 176, 4, (804-841), (2017).[doi.org] Our expert team of physicians, surgeons and nurses specialize in providing the utmost care and best possible treatment for spine disorders in the pediatric population.[kidbones.net]

  • Slow-Channel Congenital Myasthenic Syndrome

    […] by the site of the transmission defect: presynaptic, synaptic, and postsynaptic.[link.springer.com] Pediatric EMG became his major clinical research interest. Dr.[books.google.com] There are many types of CMS, grouped into three main categories named for the part of the neuromuscular junction that’s affected: presynaptic (the nerve cell), postsynaptic[mda.org]

  • Congenital Myasthenic Syndrome 14

    There are many types of CMS, grouped into three main categories named for the part of the neuromuscular junction that’s affected: presynaptic (the nerve cell), postsynaptic[mda.org] Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[books.google.de] Congenital myasthenic syndromes (CMS) are due to gene mutations in proteins located in the presynaptic, synaptic, or postsynaptic part of the neuromuscular junction. 1 - 4[jamanetwork.com]

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