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[ncbi.nlm.nih.gov] , 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] Nelson Textbook of Pediatrics. 17th ed. Philadelphia, PA: Elsevier Saunders; 2005:2060-9. Acsadi G. Duchenne Muscular Dystrophy. NORD Guide to Rare Disorders.[rarediseases.org]

    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[doi.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] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org]

    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[books.google.de] , 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[en.wikipedia.org] POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.[ncbi.nlm.nih.gov]

    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.[dx.doi.org] These problems include problems eating, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), liver problems, and eye problems (retina).[thinkgenetic.com] […] tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye ( retina ).[ghr.nlm.nih.gov]

    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.[rarediseases.org] Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features.[mayomedicallaboratories.com] Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports.[ncbi.nlm.nih.gov]

    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.[rarediseases.org] Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure.[orpha.net] […] 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[rarediseases.org]

    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.[hrsa.gov] […] 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[icd9data.com] Dowling, Myopathies and Myotonic Disorders, Pediatric Electromyography, 10.1007/978-3-319-61361-1_22, (327-354), (2017). G. Chalès and P.[dx.doi.org]

    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[books.google.de] 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[rarediseases.info.nih.gov] Pediatr Res. 1994 Oct. 36(4):436-40. [Medline]. Buhrdel P, Bohme HJ, Didt L.[emedicine.com]

    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.[emedicine.medscape.com] […] tone (hypotonia).[rarediseases.org] Brain glutamine by MRS in a patient with urea cycle disorder and coma. Pediatr Neurol. 2005. 32:143-146. Steiner RD, Cederbaum SD.[emedicine.medscape.com]

    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.[books.google.com] The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[contact.org.uk] Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo

Similar symptoms