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Congenital Nystagmus 2, Autosomal Dominant

Congenital Motor Nystagmus


Presentation

  • However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical.[malacards.org]
  • The third section, New Therapies for Congenital Nystagmus, presents basic genetic studies and clinical trials of drug and surgical treatment of those patients with infantile forms of nystagmus.[books.google.com]
  • Nystagmus 2, Congenital, AD Clinical Characteristics Ocular Features: Pendular and sometimes jerk nystagmus are often present at birth. Other patients are diagnosed between 3 and 6 months.[disorders.eyes.arizona.edu]
Rigor
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
  • In the United Kingdom entrance to otorhinolaryngology higher surgical training is highly competitive and involves a rigorous national selection process[wikivisually.com]

Workup

  • Recommended lab workup includes TORCH titers, VDRL, serum calcium and phosphorus levels and urine for reducing substance. Additional systemic workup should be done in coordination with the pediatrician.[eyewiki.aao.org]
  • It is necessary for this kind of nystagmus to perform a complete neurological and endocrinological workup.[intechopen.com]

Treatment

  • Treatment Treatment Options: Nystagmus cannot be cured. However, there are several treatments that can help. Glasses and contact lenses, and, occasionally, extraocular muscle surgery may be helpful.[disorders.eyes.arizona.edu]
  • The third section, New Therapies for Congenital Nystagmus, presents basic genetic studies and clinical trials of drug and surgical treatment of those patients with infantile forms of nystagmus.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment - Nystagmus 2- congenital- autosomal dominant Not supplied. Resources - Nystagmus 2- congenital- autosomal dominant Not supplied.[checkorphan.org]

Prognosis

  • […] dominant Home medical testing related to Nystagmus 2, congenital, autosomal dominant: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis[checkorphan.org]
  • The prognosis for those who are not treated is poor, especially in children who have early visual and hematologic impairment 5. autosomal dominant osteopetrosis ( bone-within-a-bone appearance is AD) chronic renal failure oxalosis pyknodysostosis physiological[radiopaedia.org]
  • Prognosis Nystagmus intensity (frequency x amplitude) often improves spontaneously with increasing age but depends on etiology.[emedicine.medscape.com]
  • Diagnosis and Prognosis: While no curative treatment is available for infantile onset idiopathic congenital nystagmus, it is important to obtain thorough ophthalmological, medical and neurological evaluations.[disorders.eyes.arizona.edu]
  • Prognosis: Reduced vision to the 20/60 to 20/100 range is common. In the absence of other ocular abnormalities, it is a non-progressive condition. There is no systemic disease in idiopathic congenital nystagmus.[wohproject.org]

Etiology

  • Abstract Background: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology.[neurology.org]
  • Etiology The causes of infantile cataracts have been the source of much speculation and research. Making a distinction between unilateral and bilateral cataracts may be useful when considering etiology.[eyewiki.aao.org]
  • Etiology XLOA is caused by a mutation in the G-protein coupled receptor 143 GPR143 gene located at Xp22.3 that encodes for a membrane glycoprotein found in melanosomes.[orpha.net]
  • Prognosis Nystagmus intensity (frequency x amplitude) often improves spontaneously with increasing age but depends on etiology.[emedicine.medscape.com]
  • Etiology Congenital Disease/Diagnosis Familial Infantile Nystagmus Syndrome Treatment Surgical procedures for congenital nystagmus are discussed in ref 8 References 1..[collections.lib.utah.edu]

Epidemiology

  • Summary Epidemiology The estimated birth prevalence is from 1/60,000 to 1/150,000 live male births. Clinical description Nystagmus, sometimes associated with head nodding, usually develops in affected males within the first 3 months of life.[orpha.net]
  • Epidemiology Frequency United States In one US study, the annual incidence of pediatric nystagmus was estimated to be 6.72 per 100,000 persons younger than 19 years, with infantile nystagmus comprising 87% of the study patients. [2] Mortality/Morbidity[emedicine.medscape.com]
  • The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al.[rarediseases.org]
  • Differential Diagnosis for iris hypoplasia Trauma Post-surgical Rieger syndrome Iris coloboma Gillespie syndrome Iridocorneal endothelial (ICE) syndrome Epidemiology Incidence: 1:64,000 to 1:100,000. Gender: Males and females equally affected.[webeye.ophth.uiowa.edu]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiological mechanisms underlying nystagmus are poorly understood but it is anticipated that characterization of the FRMD7 gene and identification of novel nystagmus genes will provide insights into this condition and the functioning and development[tandfonline.com]
  • Pathophysiology Few patients are noted to have nystagmus onset at birth. The term infantile is probably more accurate than congenital and includes nystagmus that presents within the first 6 months of life.[emedicine.medscape.com]
  • The pathophysiologic basis for decussation of retinal axons is an area of active research. Pathfinding of retinal axons at the optic chiasm is incompletely understood at this time.[ajnr.org]
  • While this distinction may be conceptually correct, it does not always reflect the underlying pathophysiology.[aao.org]
  • Acquired pendular nystagmus: its characteristics, localizing value, and pathophysiology. J. Neurol Neurosurg Psych 1982:45:431-439 Stahl JS, Rottach KG, Averbuch-Heller L, Maydell RD, Collins SD, Leigh RJ.[tchain.com]

Prevention

  • Prevention - Nystagmus 2- congenital- autosomal dominant Not supplied.[checkorphan.org]
  • With early treatment and aggressive prevention of hypoglycemia, brain damage can be prevented. However, brain damage can occur in children with HI if their condition is not recognized or if treatment is ineffective in the prevention of hypoglycemia.[congenitalhi.org]
  • This helps prevent the retina from being pulled away (detached) from the outer lining by the abnormal vessels.[opt.uh.edu]
  • Prevention In general nystagmus cannot be prevented.[healthofchildren.com]

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