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6,466 Possible Causes for Muscle Hypotonia, Respiratory Failure, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[] Moderate-to-severe bronchiectasis developed among older patients, leading to chronic respiratory failure, death of patient I.5 at age 27 years, and bilateral lung transplantation[] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[]

  • Duchenne Muscular Dystrophy

    Mortality is typically related to combined respiratory failure and dilated cardiomyopathy.[] , absent deep tendon reflexes and fasciculations 3 Mildly elevated creatine kinase levels, severe limb contractures present at an early age 4 Acute onset of weakness, hypotonia[] failure in the 2nd or 3rd decade.[]

    Missing: UDP-GlcNAc Decreased
  • Leigh's Disease

    The neuropathologic examination revealed symmetric brainstem lesions, explaining the sleep-related respiratory failure.[] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[] failure during all states of sleep.[]

    Missing: UDP-GlcNAc Decreased
  • Benzodiazepine Overdose

    Toxic leukoencephalopathy can occur acutely following an overdose of benzodiazepine and respiratory failure.[] (lack of muscle tone) Blurry vision Difficulty breathing or depressed breathing Stupor or unresponsiveness Hallucinations Hypotension (lowered blood pressure) Coma Death[] Consequences of such disorder may be lethal and associated with respiratory or cardiac failure.[]

    Missing: UDP-GlcNAc Decreased
  • Congenital Muscular Dystrophy

    failure and mild to moderate mental retardation.[] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[] failure.[]

    Missing: UDP-GlcNAc Decreased
  • Spinal Muscular Atrophy

    failure on nocturnal Bilevel Positive Airway Pressure.[] The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation[] Therefore, our clinical observation suggests that respiratory failure is not secondary, in any case, to the diaphragmatic palsy but other pathogenetic mechanisms might be[]

    Missing: UDP-GlcNAc Decreased
  • Niemann-Pick Disease Type C

    Thereafter, the patient suffered repeated respiratory infections and died of respiratory failure at 9 years of age.[] Decreased muscle tone Low muscle tone [4] A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical therapists[] These infants ultimately die of respiratory failure or liver failure.[]

    Missing: UDP-GlcNAc Decreased
  • Glycogen Storage Disease Type 2

    failure.[] […] deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile[] Patients may merely suffer from mild forms of the disease, or may eventually die from respiratory failure due to respiratory muscle insufficiency or aspiration pneumonia.[]

    Missing: UDP-GlcNAc Decreased
  • Botulism

    The 3 most severely affected patients had respiratory failure and were intubated 43, 64, and 68 hours postingestion.[] hypotonia ( 20, 21 ).[] Respiratory failure can occur very rapidly.[]

    Missing: UDP-GlcNAc Decreased
  • Fugu Poisoning

    Toxic manifestations start with perioral paresthesias, quickly followed by generalized weakness, ascending paralysis, and respiratory failure.[] failure seizures, coma and exitus Symptoms are strictly dose-dependent and the fastness of onset may vary.[] Death can occur within 4-6 hours from respiratory muscle paralysis and respiratory failure.[]

    Missing: UDP-GlcNAc Decreased

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