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14 Possible Causes for Presynaptic Defect at the Neuromuscular Junction

  • Ptosis

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] […] external auditory canals as anomalies associated with the disorder. [2,3] 4.9 Congenital myasthenic syndromes (CMS) CMS are a heterogeneous group of disorders affecting neuromuscular[journals.lww.com]

  • Paraneoplastic Neurologic Syndrome

    […] in defective neuromuscular transmission.[dl.ndl.go.jp] LEMS is an autoimmune disorder of neuromuscular junctions in which IgG autoantibodies lead to presynaptic loss in the P/Q-type voltage-gated calcium channel (VGCC), resulting[dl.ndl.go.jp]

  • 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] […] external auditory canals as anomalies associated with the disorder. [2,3] 4.9 Congenital myasthenic syndromes (CMS) CMS are a heterogeneous group of disorders affecting neuromuscular[journals.lww.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] Classification of congenital myasthenic syndrome Usually classified according to the defective site of the neuromuscular junction, it is often divided into presynaptic, synaptic[intechopen.com] Lambert–Eaton myasthenic syndrome (LEMS) is also an autoimmune disorder of the neuromuscular junction, but differently from MG, the defect of transmission is presynaptic type[ncbi.nlm.nih.gov]

  • 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] […] to postsynaptic defects.[ncbi.nlm.nih.gov] Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular transmission.[ncbi.nlm.nih.gov]

  • 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]

  • 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] Congenital myasthenia: heterogeneous disorder due to genetic defects in the presynaptic (mostly autosomal recessive) and postsynaptic (mostly autosomal recessive, some autosomal[neupsykey.com]

  • 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] […] the acetylcholine receptor, CMS is caused by genetic presynaptic, synaptic, or postsynaptic defects at the neuromuscular junction.[webeye.ophth.uiowa.edu] A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION.[connects.catalyst.harvard.edu]

  • Slow-Channel Congenital Myasthenic Syndrome

    […] by the site of the transmission defect: presynaptic, synaptic, and postsynaptic.[link.springer.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] Chapter First Online: 27 June 2014 Abstract Congenital myasthenic syndromes are a group of genetically heterogeneous disorders of the neuromuscular junction that can be classified[link.springer.com]

  • Congenital Slow-Channel Myasthenic Syndrome Type 4A

    […] within the neuromuscular junction Presynaptic Synaptic Postsynaptic P.J.[authorstream.com] Lorenzoni et al. / Pediatric Neurology 46 (2012) 141- 148 PowerPoint Presentation: PRESYNAPTIC DEFECTS rarest, affecting an estimated 7-8% of patients 4 subtypes Episodic[authorstream.com] […] component; MuSK muscle-specific receptor tyrosine kinase Continuum Lifelong Learning Neurol 2009;15(1) CLASSIFICATION: CLASSIFICATION Depending on the location of the primary defect[authorstream.com]

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