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1,289 Possible Causes for All Reported Mutations Have Occurred De Novo, Unilateral or Bilateral, Non-Progressive, Restrictive Ophthalmoplegia

Did you mean: All Reported Mutations Have Occurred De Novo, Unilateral or Bilateral, Non-Progressive, Restrictive, Ophthalmoplegia

  • Congenital Fibrosis of Extraocular Muscles Type 3A

    Individuals with CFEOM3A may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia to mild asymptomatic restrictions[cags.org.ae] UniProtKB/Swiss-Prot : 76 Fibrosis of extraocular muscles, congenital, 3A: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular[malacards.org] A mutation screen involving 29 unrelated families revealed that 13 had eight TUBB3 pathogenic variants and all occurred de novo (Tischfield et al. 2010).[preventiongenetics.com] Congenital fibrosis of the extraocular muscles (CFEOM) Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, non-progressive condition that results in restrictive[webeye.ophth.uiowa.edu]

  • Congenital Fibrosis of Extraocular Muscles

    CFEOM3 can be unilateral or bilateral, is often autosomal dominant, and can have variable penetrance [ 4, 22, 23 ].[molvis.org] BACKGROUND: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a congenital, non-progressive autosomal-dominant disorder with bilateral oculomotor nerve palsy[ncbi.nlm.nih.gov] ophthalmoplegia affecting muscles innervated by the oculomotor nerve.[ncbi.nlm.nih.gov] The Tukel syndrome is correlated with congenital non-progressive opthalmoplegia which is the inability to move the eyes.[wiki.ggc.usg.edu]

    Missing: All Reported Mutations Have Occurred De Novo
  • Congenital Fibrosis of Extraocular Muscles Type 5

    Bilateral vs unilateral DRS – As described previously in the literature, bilateral DRS is less frequently seen than unilateral ones, with a reported incidence between 10%[dovepress.com] […] global ophthalmoplegia and congenital ptosis.[webeye.ophth.uiowa.edu] It occurs in all ethnic groups, and is caused by heterozygous missense mutations in TUBB3 .[aao.org] Congenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis.[ingentaconnect.com]

  • Ophthalmoplegia

    Demographic parameters, symptom onset and disease progression, the presence of unilateral or bilateral complaints and concomitant pathologies should be considered when establishing[symptoma.com] The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.[uniprot.org] Ophthalmoplegia is an important finding in orbital cellulitis. [1] The orbit of the eye, including mechanical restrictions of eye movement, as in Graves disease.[en.wikipedia.org] It can be unilateral or bilateral.[merckmanuals.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Tolosa-Hunt Syndrome

    We present MRI findings of six patients with a clinical history of at least one episode of unilateral or bilateral orbital-periorbital pain, clinical findings of associated[ncbi.nlm.nih.gov] Since subsequent MRI confirmed no progression of the above findings, the intracavernous and intracisternal masses were suspected to be non-specific inflammatory granulomas[ncbi.nlm.nih.gov] Table 3 Additional causes of painful ophthalmoplegia Various orbital diseases cause painful ophthalmoplegia.[jnnp.bmj.com] Cranial MRI studies of the patients with a clinical history of at least one episode of unilateral or bilateral orbital and periorbital pain, and associated paresis of one[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Benign Adult Familial Myoclonic Epilepsy

    Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral[orpha.net] […] cytopathy,occulocraniosomatic syndrome (absolute),ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, ophthalmoplegia plus syndrome Kikuchi-Fujimoto-Krankheit[orphananesthesia.eu] It is distinct from progressive myoclonic epilepsy in its adult onset and non-progressive course.[jstage.jst.go.jp] FCMTE1), is a hereditary epileptic syndrome characterized by autosomal dominant inheritance, adult-onset tremulous hand movement, myoclonus, infrequent epileptic seizure and non-progressive[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Autosomal Recessive Deafness 42

    Hearing loss can affect one ear (unilateral) or both ears (bilateral).[icdlist.com] UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 42: A prelingual, non-progressive form of non-syndromic sensorineural hearing loss.[malacards.org] DRPLA 17 Movement disorders Chorea DRPLA, 17 1 (Late stage) Myoclonus DRPLA 2, 19 Tremor 2, 8, 12 15, 21, 27 Parkinsonism 3, 9, 12, 17 2, 21 Dystonia 3 17 Ocular disorders Ophthalmoplegia[neuromuscular.wustl.edu] It can affect one ear (unilateral) or both ears (bilateral).[en.wikipedia.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Oculootoradial Syndrome

    Is it unilateral or bilateral? Continuous or intermittent? Ask about a family history of hearing loss.[checkorphan.org] Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia[familydiagnosis.com] […] rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive[malacards.org] These may occur unilaterally or bilaterally, and either as isolated malformations or in association with other birth defects ( Figure 106-1 ).[mhmedical.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Duane Retraction Syndrome

    In both unilateral and bilateral cases, type I was the most common subtype, followed by types III and II.[ncbi.nlm.nih.gov] At birth, affected infants have restricted abduction and/or adduction.[orpha.net] It is a congenital and non-progressive strabismus syndrome.[disorders.eyes.arizona.edu] […] binocular movement H51.0 Palsy (spasm) of conjugate gaze H51.1 Convergence insufficiency and excess H51.11 Convergence insufficiency H51.12 Convergence excess H51.2 Internuclear ophthalmoplegia[icd10data.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Anophthalmia - Microphthalmia Syndrome

    Anophthalmia may be bilateral or unilateral with or without colobomatous malformation of the fellow eye.[ncbi.nlm.nih.gov] However, more recently the use of hydrophilic expanders has allowed a relatively non-invasive start to the expansion process and a reduction in the number of initial visits[nature.com] […] or other restricted eye movements.[reviewofophthalmology.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

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