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4,003 Possible Causes for Muscle Hypotonia, Tachypnea, UDP-GlcNAc Decreased

  • Duchenne Muscular Dystrophy

    , 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[orthobullets.com] Review Topic QID: 2232 1 Pseudohypertrophy of the calves, markedly increased creatine kinase levels, and abnormal dystrophin 2 Proximal muscle weakness occuring early in childhood[orthobullets.com]

    Missing: UDP-GlcNAc Decreased
  • Primary Apnea

    Irritability Neonatal respiratory distress syndrome Neonatal sepsis Neutropenia - infants Pyloric stenosis Spasmus nutans Tongue tie Tracheomalacia - acquired Transient tachypnea[icdlist.com] […] symptoms 770.2 Interstitial emphysema and related conditions 770.3 Pulmonary hemorrhage 770.4 Primary atelectasis 770.5 Other and unspecified atelectasis 770.6 Transitory tachypnea[healthprovidersdata.com] Signs include jitteriness, tremors, diaphoresis, tachypnea, low temperature, poor muscle tone, and low glucose screening test levels.[studystack.com]

    Missing: UDP-GlcNAc Decreased
  • Hypokalemia

    […] manifestations: -Hypotonia and muscle weakness -Respiratory depression -Muscle cramps -Constipation and/or ileus -Rhabdomyolysis and myoglobinuria In hyperkalemia, the resting[clinicaladvisor.com] However, in more severe cases, patients can present with muscle weakness, paraesthesia, constipation / ileus or pseudo-obstruction, hypotonia, hyporeflexia, muscle cramps,[teachmesurgery.com] […] signs and symptoms should raise the concern for hypokalemia: Cardiac manifestations: -T wave flattening -ST depression -Appearance of U wave -Arrhythmias Skeletal and smooth muscle[clinicaladvisor.com]

    Missing: UDP-GlcNAc Decreased
  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    […] hernia 0000023 Lethargy 0001254 Methylmalonic acidemia 0002912 Methylmalonic aciduria 0012120 Neutropenia Low blood neutrophil count Low neutrophil count [ more ] 0001875 Tachypnea[rarediseases.info.nih.gov] hypotonia, hepatomegaly and coma.[malacards.org] […] reported for individuals suffering from other forms of homocystinuria with methylmalonic acidemia and is limited to lethargy, anomalies of muscle tone, respiratory distress and tachypnea[symptoma.com]

    Missing: UDP-GlcNAc Decreased
  • Propionic Acidemia

    At 3 months of life, he presented with tachypnea and altered mental status, which lead to the diagnosis of PA.[ncbi.nlm.nih.gov] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Primary Care Management Upon Notification of the Screen Contact the family and evaluate the infant for poor feeding, lethargy, vomiting, and tachypnea.[medicalhomeportal.org]

    Missing: 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[en.wikipedia.org] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[rarediseases.info.nih.gov] Common neurological symptoms include diminished muscle tone (hypotonia), seizures, deficits in attaining developmental milestones (developmental disability), varying degrees[rarediseases.org]

    Missing: Tachypnea
  • Urea Cycle Disorder

    Soon after, seizures, hypotonia (poor muscle tone, floppiness), respiratory distress (respiratory alkalosis), and coma may occur.[nucdf.org] Other symptoms such as hypotonia or poor muscle tone, seizures, ataxia, respiratory problems and coma may follow.[news-medical.net]

    Missing: UDP-GlcNAc Decreased
  • Leigh's Disease

    […] regression, abnormal muscle tone, weakness, dystonia, brainstem and cerebellar dysfunction (ataxia), visual loss, missed milestones or regression of the achieved milestones, tachypnea[ijri.org] 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[ncbi.nlm.nih.gov] […] symptoms, such as malaise, fatigue, anorexia and failure to thrive are present in many patients, while respiratory and gastrointestinal disturbances such as hypoxia and tachypnea[symptoma.com]

    Missing: UDP-GlcNAc Decreased
  • Carbamoyl Phosphate Synthetase Deficiency

    […] may be evident.Head, ears, eyes, nose, and throat (HEENT): Papilledema may be present if cerebral edema and increased intracranial pressure (ICP) have occurred.Pulmonary Tachypnea[medigoo.com] […] tone (hypotonia).[rarediseases.org] Pulmonary See the list below: Tachypnea or hyperpnea may be present. Apnea and respiratory failure may occur in later stages.[emedicine.medscape.com]

    Missing: UDP-GlcNAc Decreased
  • Hyponatremia

    Symptoms of hypernatremia in infants can include tachypnea, muscle weakness, restlessness, a high-pitched cry, insomnia, lethargy, and coma.[aafp.org] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[biodonsys.com] Some infants have diminished muscle tone (hypotonia), so that a baby appears “floppy”, attributable to elevated levels of calcium in the blood (hypercalcemia).[rarediseases.org]

    Missing: UDP-GlcNAc Decreased

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