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1,394 Possible Causes for Autosomal Dominant, Myalgia, Pediatric Disorder

  • Cryopyrin-Associated Periodic Syndrome

    Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov] Nine patients (69%) reported myalgia. Six patients (46%) had papilledema and a further 2 (15%) had optic disc pallor. MRI brain scan was normal in all patients.[ncbi.nlm.nih.gov]

  • Acute Hepatic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Possibly or definitely related AEs reported in two or more cases were injection site reactions and myalgia; all of these events were mild.[businesswire.com] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com]

  • Hypokalemic Periodic Paralysis

    The disorder has been described most frequently in Asian males.[pediatrics.aappublications.org] Abstract Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease[ncbi.nlm.nih.gov] Case 2 was a retroviral disease patient on treatment presented with myalgia and muscle weakness. On the evaluation, she had typical findings of proximal RTA.[mjdrdypu.org]

  • Familial Hypophosphatemia

    Genetic disorders of phosphate regulation. Pediatr Nephrol. 2012;27(9):1477-87. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.[rarediseases.org] Generalized muscle weakness is the most common symptom across all types of familial hypophosphatemia, while myalgia and fatigue are invariably present.[symptoma.com] The ICD code E8331 is used to code Autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive[icd.codes]

  • Erythropoietic Coproporphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] dominant ) Hereditary coproporphyria ( autosomal dominant ) Doss porphyria ( autosomal recessive ) Chronic hepatic porphyrias Porphyria cutanea tarda ; ( autosomal dominant[amboss.com] "Disorders of Porphyrin Metabolism". In Dietzen, Dennis J; Bennett, Michael J.; Wong, Edward C. (eds.). Biochemical and Molecular Basis of Pediatric Disease (4th ed.).[en.wikipedia.org]

  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children . Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org] dominant or X-linked hypophosphatemic rickets c 1,25(OH) 2 D levels are usually normal for patients taking the medications listed, and those with nephrotic syndrome, hepatic[questdiagnostics.com] Correction of hyperlipidemia with statins is often limited by the side-effect of statin-induced myalgias.[ncbi.nlm.nih.gov]

  • Familial Mediterranean Fever

    […] doi: 10.1097/BOR.0000000000000315 PEDIATRIC AND HERITABLE DISORDERS: Edited by Polly J.[journals.lww.com] […] that mimics autosomal dominant inheritance.[ghr.nlm.nih.gov] Protracted febrile myalgia syndrome is a severe form of familial Mediterranean fever.[ncbi.nlm.nih.gov]

  • Hemophilia

    John Akabutu Comprehensice Centre for Bleeding DisordersPediatric Division Stollery Children’s Hospital Clinic Director Dr.[hemophilia.ca] Its inheritance is autosomal dominant, which means that a parent with the gene has a 50/50 chance to pass it on.[stanfordchildrens.org] […] bibliography or works cited list. hemophilia Oxford Dictionary of Rhymes Oxford Dictionary of Rhymes 2007, originally published by Oxford University Press 2007. hemophilia • myalgia[encyclopedia.com]

  • Familial Partial Lipodystrophy

    , including general internists, pediatric and adult endocrinologists, pediatricians, lipidologists, cardiologists, internists, and geneticists.[books.google.com] Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple[ncbi.nlm.nih.gov] A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities.[ncbi.nlm.nih.gov]

  • Hereditary Spherocytosis

    The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number[touchoncology.com] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[emedicine.com] Headache, myalgia, and abdominal pain Aplastic crisis can give rise to these symptoms. [3] Right upper abdominal pain, radiating to the back across the flanks, associated[explainmedicine.com]

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