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12 Possible Causes for Failure to Thrive, Presynaptic Defect at the Neuromuscular Junction

  • 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] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.[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] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com] HYPOGONADISM 212120 : CARDIOGENITAL SYNDROME 212135 : CARDIOSKELETAL SYNDROME, KUWAITI TYPE 212360 : CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS 212540 : CATARACT, MICROCEPHALY, FAILURE[www5.geometry.net]

  • 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] Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.ro] Botulism should be suspected in an infant aged 12 months with symptoms including constipation, lethargy, poor feeding, weak cry, bulbar palsies, and failure to thrive.[cdc.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] Clinical features Stage of ataxia; mental deficiency during infantile and childhood stage Delayed development, failure to thrive, hypotonia, and multisystem organ failure[emedicine.medscape.com] Severe X-linked mitochondrial encephalomyopathy Severe congenital nemaline myopathy Severe early-onset axonal neuropathy due to MFN2 deficiency Severe feeding difficulties-failure[se-atlas.de]

  • 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] He has suffered from gastro-esophageal reflux disorder (GERD) and failure to thrive (FTT) since early infancy.[oatext.com] […] the acetylcholine receptor, CMS is caused by genetic presynaptic, synaptic, or postsynaptic defects at the neuromuscular junction.[webeye.ophth.uiowa.edu]

  • Congenital Myasthenic Syndrome Type 1B

    […] within the neuromuscular junction Presynaptic Synaptic Postsynaptic P.J.[authorstream.com] Another 11 were underweight for height indicative of failure to thrive and required dietetic input.[kclpure.kcl.ac.uk] 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] Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com] […] to thrive and loss of motor milestones, loss of vision Spinocerebellar Ataxia 8 -- common initial symptoms are scanning dysarthria with a characteristic drawn-out slowness[en.wikibooks.org]

  • Matthew Wood Syndrome

    Myasthenic Syndromes, Congenital A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION.[bioportfolio.com] […] to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intrauterine growth retardation - Larynx / laryngeal stenosis / atresia - Low set ears / posteriorly[csbg.cnb.csic.es] […] to thrive, flexion contractures Coloboma-obesity-hypogenitalism-mental retardation syndrome AD Unknown Cataract, coloboma, obesity, hypogenitalism, learning difficulties[anoftalmiapremedico.blogspot.com]

  • Congenital Slow-Channel Myasthenic Syndrome Type 4A

    […] within the neuromuscular junction Presynaptic Synaptic Postsynaptic P.J.[authorstream.com] By 2-3 months of age, the oldest sibling showed signs of bilateral ptosis, choking, decreased feeding and failure to thrive and had several episodes of respiratory failure[cags.org.ae] Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com]

  • Congenital Microcoria

    Site of defect and molecular targets at the neuromuscular junction Presynaptic defects ChAT deficiency, SNAP25B deficiency, synaptotagmin-2 deficiency Acetylcholine receptor[scielo.br] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com] […] to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis.[mendelian.co]

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