Create issue ticket

6,581 Possible Causes for All Reported Mutations Have Occurred De Novo, Muscle Hypotonia, Pediatric Disorder

Show results in: Română

  • Duchenne Muscular Dystrophy

    BACKGROUND AND PURPOSE: Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by[] , 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[] Nelson Textbook of Pediatrics. 17th ed. Philadelphia, PA: Elsevier Saunders; 2005:2060-9. Acsadi G. Duchenne Muscular Dystrophy. NORD Guide to Rare Disorders.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Leigh's Disease

    , Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany 2 Nijmegen Centre for Mitochondrial Disorders at the[] 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[] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Alpers Syndrome

    […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[] , hypotonia generally arises in infants before they are 6 months old, their muscles begin wasting away, and there is delay in psychomotor learning (learning basic skills like[] POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Hoffman Pediatric Cardiology (2009) Disorders of mitochondrial long-chain fatty acid oxidation R. J.[] These problems include problems eating, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), liver problems, and eye problems (retina).[] […] tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye ( retina ).[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Short Chain Acyl CoA Dehydrogenase Deficiency

    Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. Eur J Pediatr. 2000;159:S213-S218. Rinaldo P.[] Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features.[] Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Carnitine Transporter Deficiency

    , Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates, for assistance in the preparation of this report.[] Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure.[] […] acknowledges Joshua Banago, NORD Editorial Intern from the University of Notre Dame, and Ayman W El-Hattab, MD, FAAP, FACMG, Division of Clinical Genetics and Metabolic Disorders[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Glycogen Storage Disease Type 2

    Nomenclature for Conditions based upon “Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels.” Pediatrics. 2006; 117 (5) Suppl: S308-S314.[] […] 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[] Dowling, Myopathies and Myotonic Disorders, Pediatric Electromyography, 10.1007/978-3-319-61361-1_22, (327-354), (2017). G. Chalès and P.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Fructose-1,6-Diphosphatase Deficiency

    Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[] Low or weak muscle tone 0001252 Seizures Seizure 0001250 Tachycardia Fast heart rate Heart racing Racing heart [ more ] 0001649 Showing of 17 Last updated: 12/1/2018 The[] Pediatr Res. 1994 Oct. 36(4):436-40. [Medline]. Buhrdel P, Bohme HJ, Didt L.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Carbamoyl Phosphate Synthetase Deficiency

    Laboratory evaluation of urea cycle disorders. J Pediatr. 2001 Jan. 138(1 Pt 2):S21-S29. Summar ML.[] […] tone (hypotonia).[] Brain glutamine by MRS in a patient with urea cycle disorder and coma. Pediatr Neurol. 2005. 32:143-146. Steiner RD, Cederbaum SD.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Pelizaeus-Merzbacher Disease

    The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates the full range of pediatric disorders diagnosable by modern neuroimaging.[] The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[] Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy.[]

    Missing: All Reported Mutations Have Occurred De Novo

Similar symptoms