Create issue ticket

343 Possible Causes for Onset at Birth or in Early Childhood, Presynaptic Defect at the Neuromuscular Junction

  • Smith Lemli Opitz Syndrome

    Type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum[icd10data.com] These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] ; xp) is late childhood onset with mild symptoms.[icd10data.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Fazio-Londe: onset in early childhood; progressive bulbar paralysis, with anterior horn cell involvement 4. Glycogen storage diseases: autosomal recessive a.[neupsykey.com] […] dominant [slow channel syndrome]) neuromuscular junction; not associated with antibodies to AChR; symptoms: usually begin in the neonatal period, ocular, bulbar, respiratory[neupsykey.com] Neurogenic arthrogryposis: sporadic disease; affects fetus, causing contractures by the time of birth; electromyography (EMG) is normal but shows a neuropathic process. 3.[neupsykey.com]

  • Hyponatremia

    Childhood-onset hypophosphatasia ranges from low bone mineral density with unexplained fractures to rickets.[orpha.net] Infantile hypophosphatasia is characterized by rickets developing between birth and six months of age.[orpha.net] Adult hypophosphatasia involves early loss of adult dentition and stress fractures of the lower extremities in middle age.[orpha.net]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Long QT Syndrome 15

    エントリ H00720 名称 QT 延長症候群 下位グループ ロマノワード症候群 ジャーベル・ランゲ・ニールセン症候群 [DS: H02091 ] 概要 QT 延長症候群は心電図の QT 間隔の異常な延長と失神発作を示す心血管障害である。他の疾患や薬物の影響で起こる後天性と、心筋細胞のイオンチャネルをコードする遺伝子の異常による先天性がある。発作のないときは無症状であるが、発作時はトルサド・ド・ポアンツ (Tdp) と呼ばれる心室性不整脈を特徴とし、適切な医療処置を行わないと心室細動に移行して死亡することもある。QT[…][genome.jp]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Cesarean Section

    […] and support in early childhood are developed and provided for these potentially vulnerable children.[pediatrics.aappublications.org] Nevertheless, there are instances where the spontaneous onset of labor occurs before 39 weeks or planned birth is unavoidable, and it is important that appropriate interventions[pediatrics.aappublications.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Dilated Cardiomyopathy Type 2B

    The disorder is slowly progressive with onset at birth and fatal outcome in early childhood due to bronchopneumonia or congestive heart failure.[ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Neuronal Ceroid Lipofuscinosis Type 10

    幼児期および晩期乳児期の神経型のセロイドリポフスノーゼ(NCL)は、中枢神経系(CNS)に影響を及ぼすリソソーム蓄積症である。乳児型のNCL(INCL)はPPT1遺伝子の突然変異によって誘導され、後期乳児NCL(LINCL)はTPP1遺伝子の突然変異によっておきる。 PPT1またはTPP1酵素機能の欠損は、患者細胞において病理学的なリポフスチン様物質のリソソーム蓄積をもたらす。現在、NCLsには小分子の薬物治療は存在しない。[…][cyding.jp]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Essential Tremor

    Unlike Parkinson’s, where the onset of the condition is rare before age 55, Essential Tremor can present at birth or during early childhood.[thehopenet.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Schizophrenia

    Although schizophrenia rarely manifests in early childhood, childhood factors influence disease onset in adulthood.[merckmanuals.com] These factors include Genetic predisposition Intrauterine, birth, or postnatal complications Viral CNS infections Childhood trauma and neglect Although many people with schizophrenia[merckmanuals.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Psychomotor Retardation

    Type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum[icd10data.com] ; xp) is late childhood onset with mild symptoms.[icd10data.com] Cockayne syndrome is classified by the severity and age of onset.[icd10data.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction

Further symptoms