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19 Possible Causes for Presynaptic Defect at the Neuromuscular Junction, Symptoms Often Improve Gradually with Age

  • Congenital Slow-Channel Myasthenic Syndrome Type 4A

    […] within the neuromuscular junction Presynaptic Synaptic Postsynaptic P.J.[authorstream.com] Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.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]

  • Familial Infantile Myasthenia

    Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com] Morphological studies in three patients with FIM ( 9 ) showed no abnormalities of the neuromuscular junction; no histological or ultrastructural evidence for AChR deficiency[academic.oup.com]

  • Postural Orthostatic Tachycardia Syndrome

    PoTS often improves gradually over time, and there are a number of self-care measures and medications that can help.[nhs.uk] PoTS affects many different people, but is most common in girls and women aged 15 to 50.[nhs.uk] Some people have mild symptoms, while others find the condition affects their quality of life.[nhs.uk]

    Missing: 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]

    Missing: Symptoms Often Improve Gradually with Age
  • Congenital Tracheomalacia

    The majority gradually improve, with symptoms usually resolving by the age of 3 years. 2 A few present with more severe symptoms of airway obstruction and increased work of[jamanetwork.com] Most often, children with this anomaly are minimally symptomatic, presenting with chronic cough or expiratory stridor on exertion.[jamanetwork.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • 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]

    Missing: Symptoms Often Improve Gradually with Age
  • 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]

    Missing: Symptoms Often Improve Gradually with Age
  • 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]

    Missing: Symptoms Often Improve Gradually with Age
  • 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]

    Missing: Symptoms Often Improve Gradually with Age
  • Idiopathic Camptocormia

    Botulinum toxin : Botulinum toxin acts by producing chemodenervation and local paralysis in the injected muscle due to presynaptic neuromuscular junction defect.[ijmr.org.in]

    Missing: Symptoms Often Improve Gradually with Age

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