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2,042 Possible Causes for Autosomal Dominant, Paresthesia, Pediatric Disorder

  • Pseudohypoparathyroidism

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism . 4th ed.[] Signs can include paresthesias, tetany, cramps, and even seizures. Moreover, the physical exam is notable for findings such as Chvostek sign and Trousseau sign.[] PHP-Ib familial form, with an autosomal dominant pattern of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an[]

  • 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.[] ) symptoms Clinical features Fever GI symptoms : severe abdominal pain, nausea, vomiting Neurological abnormalities Polyneuropathy : non-specific pain, weakness/fatigue, paresthesia[] 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[]

  • Hyperkalemic Periodic Paralysis

    Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 151. Tilton AH. Acute neuromuscular diseases and disorders.[] Weakness can be accompanied by glove-and-stocking paresthesias.[] We report on linkage analysis in a family in which both HPP and MH are inherited as autosomal-dominant traits.[]

  • Hypertrophic Interstitial Neuropathy

    Pain Paresthesias Sensory loss Weakness Imbalance Normal conduction velocities but reduced compound muscle action potentials Axonal: pathological process affects the underlying[] dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2C Autosomal dominant[] dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) Autosomal dominant Charcot-Marie-Tooth disease type 2B Autosomal[]

  • Hypoglycemia

    Abstract CHARGE syndrome is a rare autosomal dominant disorder involving multiple organs.[] Severe hypoglycemia eventually lead to glucose deprivation of the central nervous system resulting in hunger; sweating; paresthesia; impaired mental function; seizures; coma[] Most of these defects are autosomal recessive, but some are autosomal dominant.[]

  • Migraine

    […] mechanisms that may explain the association between the two disorders, and the effects of treatment.[] KEYWORDS: aura; migraine; paresthesia[] Analysis of 31 families with an apparently autosomal-dominant transmission of migraine with aura in the nuclear family.[]

  • Iron Deficiency Anemia

    Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital.[] Symptoms may vary from : General body weakness Fatigue Short breaths Tingling feeling on the feet Crave for things like clay, ice or dirt Diagnosing Iron Deficiency Anemia[] The latter is an autosomal dominant disorder characterized by distinctive cataracts and HF in the absence of iron overload.[]

  • Rolandic Epilepsy

    Sarah J Spence and Mark T Schneider, The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders, Pediatric Research, 65, 6, (599), (2009).[] Some patients claim headaches and sensory alterations, mainly paresthesias and numbness in oral cavity, tongue and face. A tingling feeling is most often described.[] ADRESD is inherited in an autosomal dominant manner with anticipation.[]

  • Diabetes Mellitus Type 1

    Adult and pediatric endocrinologists, specialists in treating hormonal disorders and disorders of the endocrine system, manage patients with diabetes.[] […] thirst, fatigue, and weight loss (despite an appetite), N&V; type 2 DM is associated with, in addition, non-healing ulcers, oral and bladder infections, blurred vision, paresthesias[] Type 2 diabetes mellitus has a strong inheritance pattern that can suggest autosomal dominant inheritance.[]

  • Friedreich Ataxia

    Leigh syndrome (subacute necrotizing encephalomyopathy) is a rare, highly morbid and fatal pediatric disorder that results in severe neurological and neuromuscular dysfunction[] She denied any pain, numbness, tingling, difficulty with walking distances or up stairs, or fine motor problems including writing, tieing shoes, brushing teeth or eating.[] TNNT2 gene mutations have been previously identified in individuals with a familial form of hypertrophic cardiomyopathy (FHC), an autosomal dominant inherited disease characterised[]

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