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460 Possible Causes for Hyperreflexia, Hyporeflexia, Pediatric Disorder

  • Pelizaeus-Merzbacher Disease

    Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy[ncbi.nlm.nih.gov] 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] Last neurological examination in 1999 showed no nystagmus anymore, but extremely dystrophic limbs, truncal deformation, due to severe scoliosis, tetraplegia with hyperreflexia[ncbi.nlm.nih.gov]

  • Friedreich Ataxia

    , patients' associations, and National Centre for Rare Disorders.[ncbi.nlm.nih.gov] We report two patients with delayed-onset, hyperreflexia and gradually progressive disease.[ncbi.nlm.nih.gov] His examination was significant for spastic gait, hyperreflexia, and sensory neuropathy. Genetic testing revealed a compound heterozygous mutation in the FXN gene.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    Hyperreflexia. Other symptoms and signs depend on the aetiology: DiGeorge's syndrome : Recurrent infections due to T-cell immunodeficiency.[patient.info] Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism . 4th ed.[pedsinreview.aappublications.org] 0000716 Dyspnea Trouble breathing 0002094 Hypergonadotropic hypogonadism 0000815 Hyperostosis frontalis interna 0004438 Hypertension 0000822 Hypocalcemic tetany 0003472 Hyporeflexia[rarediseases.info.nih.gov]

  • Cholinergic Crisis

    Multiple sclerosis (MS) - hyperreflexia and extensor plantar response can be seen, which help differentiate it from MG.[patient.info] All new reorganization —a real time saver for the busy trainee or clinician More consistent presentation for greater accessibility New entries on pediatric disorders to help[books.google.com] disorders, including those of idiopathic, infectious, reactive, inflammatory, autoimmune, degenerative, and mechanical origin.[books.google.com]

  • Acrodynia

    Acrodynia is a reaction that occurs in children who have been exposed to mercury. Mercury toxicity has systemic manifestations as well as cutaneous manifestations, which can appear similar to those found in a number of other diseases. We present a case of acrodynia caused by mercury exposure in a previously[…][ncbi.nlm.nih.gov]

  • Leigh's Disease

    Neurological symptoms include cognitive impairment, hypotonia, ataxia, tremor, polyneuropathy, hyporeflexia, seizures, as well as generalized weakness.[symptoma.com] , Neonatology and Pediatric Cardiology , University Children's Hospital, Heinrich-Heine-University, Düsseldorf , Germany 2 Nijmegen Centre for Mitochondrial Disorders at the[jnnp.bmj.com] A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age[ncbi.nlm.nih.gov]

  • Hereditary Areflexic Dystasia

    […] number of peripheral myelinated nerve fibers ; Distal amyotrophy ; Distal muscle weakness ; Distal sensory impairment ; Gait ataxia ; Hammertoe ; Hypertrophic nerve changes ; Hyporeflexia[mousephenotype.org] National Organization for Rare Disorders (NORD) . 2004; . Kleigman. Chapter 612 - Hereditary Motor-Sensory Neuropathies. Nelson Textbook of Pediatrics, 18th edition .[rarediseases.info.nih.gov] SPINOCEREBELLAR ATAXIA 23; SCA23 Is also known as ;sca23 Related symptoms: Autosomal dominant inheritance Ataxia Peripheral neuropathy Dysarthria Hyperreflexia SOURCES: DOID[mendelian.co]

  • Niemann-Pick Disease

    Neurological examination at Mayo Clinic revealed oromandibular dystonia, an ataxic and hypokinetic dysarthria, mild hyperreflexia, and gait ataxia.[jnnp.bmj.com] Niemann-Pick Type C Disease (NP-C) is a genetic pediatric neurodegenerative disorder causing progressive deterioration of the nervous system.[bripardun.com] In conclusion, this study demonstrates that NP-B is a life-threatening disorder associated with significant morbidity and mortality, especially in the pediatric population[nature.com]

  • Tethered Cord Syndrome

    Patients with asymmetrical motor symptoms or lower extremity hyperreflexia at presentation were most likely to experience improvements in motor symptoms.[ncbi.nlm.nih.gov] In: Pang D (ed) Disorders of the pediatric spine.[link.springer.com] […] conus. [15] , [16] Perikariya (nerve cell bodies) are affected earlier than axons, and these may account for the earlier appearance of incontinence, muscle atrophy, and hyporeflexia[jdrntruhs.org]

  • Zellweger Syndrome

    At 4 years of age, she developed nystagmus, hyperreflexia, clonus, and extensor plantar responses.[omicsonline.org] Peroxisomal disorders: A newly recognised group of genetic diseases. Eur J Pediatr 1986;144(5):430-40. Gould SJ, Raymond GV, Valle D.[acta.tums.ac.ir] A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia, hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the diagnosis of[ncbi.nlm.nih.gov]

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