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1,389 Possible Causes for Neonatal Hypotonia, Thin Filament Shortening and Disorganization

  • Nemaline Myopathy

    RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which[] Loss of LMOD3 in patient muscle resulted in shortening and disorganization of thin filaments.[] The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia.[]

  • Hypoglycemia

    Intern Med. 2016;55(8):949-53. doi: 10.2169/internalmedicine.55.5737. Epub 2016 Apr 15. Author information 1 Department of Endocrinology and Metabolism, Dokkyo Medical University, Japan. Abstract We encountered a 62-year-old woman who experienced frequent episodes of hypoglycemia. She was diagnosed with postprandial[…][]

    Missing: Thin Filament Shortening and Disorganization
  • Spinal Cord Injury

    When neonates with asphyxia present with prolonged respiratory failure and hypotonia, spinal cord injury should be considered in the differential diagnosis.[] Thus she was diagnosed with an upper spinal cord injury at that time.Some patients with neonatal spinal cord injuries satisfy the criteria for therapeutic hypothermia.[]

    Missing: Thin Filament Shortening and Disorganization
  • Primary Apnea

    Physical exam Neonates with apnea demonstrate notable findings such as absent wall movement, cyanosis, and hypotonia.[]

    Missing: Thin Filament Shortening and Disorganization
  • Neonatal Sepsis

    Patients and methods Patients This study was carried out in the neonatal ICU in Benha Children Hospital over 60 neonates presenting with late-onset neonatal septicemia.[] Neonatal sepsis or septicaemia is a clinical syndrome characterized by systemic signs of circulatory compromise (e.g., poor peripheral perfusion, pallor, hypotonia, poor responsiveness[] […] presentation, may be associated with any gradation of symptoms, from only subtle feeding disturbances to frank septic shock. 14 In the Japanese NICUs, the definition of neonatal[]

    Missing: Thin Filament Shortening and Disorganization
  • Fetal Trauma

    The neonate can present with hypotonia, quadriplegia or paraplegia; plain radiographs, ultrasound and MRI can aid diagnosis [ 19 ].[]

    Missing: Thin Filament Shortening and Disorganization
  • Guillain-Barré Syndrome

    Electrophysiology plays a determinant role in Guillain-Barré syndrome (GBS) diagnosis, classification of the subtypes and in establishing prognosis. In the last three decades, different electrodiagnostic criteria sets have been proposed for acute inflammatory demyelinating neuropathy (AIDP), acute motor axonal[…][]

    Missing: Thin Filament Shortening and Disorganization
  • Prader-Willi Syndrome

    Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS.[] The patient showed neonatal hypotonia, hyperphagia, obesity, central hypogonadism, hypothyroidism, strabismus.[] […] is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal[]

    Missing: Thin Filament Shortening and Disorganization
  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[] Motor control and hypotonia Neonates with DS present with muscle hypotonia and many individuals with DS demonstrate some form of motor impairment, often described as clumsiness[]

    Missing: Thin Filament Shortening and Disorganization
  • Glycogen Storage Disease Type 2

    It also has a unique clinical presentation depending on age at onset, ranging from fatal hypotonia and cardiomegaly in the neonate to muscular dystrophy in adults.[]

    Missing: Thin Filament Shortening and Disorganization

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