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Vertical nystagmus

MedGen UID:
75749
Concept ID:
C0271386
Disease or Syndrome
Synonyms: Nystagmus, Vertical; Vertical Nystagmus
SNOMED CT: Vertical nystagmus (111533001)
 
HPO: HP:0010544

Definition

Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. [from HPO]

Term Hierarchy

Conditions with this feature

Nystagmus, hereditary vertical
MedGen UID:
322336
Concept ID:
C1834078
Disease or Syndrome
Familial amyloid neuropathy
MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.
Frontonasal dysplasia with alopecia and genital anomaly
MedGen UID:
462053
Concept ID:
C3150703
Disease or Syndrome
Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Rhizomelic chondrodysplasia punctata type 5
MedGen UID:
900333
Concept ID:
C4225237
Disease or Syndrome
Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
MedGen UID:
902729
Concept ID:
C4225391
Disease or Syndrome
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms. Those with presentation in the neonatal period typically have severe hypotonia, encephalopathy, or neonatal seizures within the first few days of life. Signs and symptoms typically progress quickly and the affected individual ultimately succumbs to central apnea or arrhythmia. A second group of affected individuals present in infancy with developmental regression resulting in severe developmental delay. A third group of affected individuals have normal development with isolated paroxysmal dystonia that may be exacerbated by illness or exertion. Across all three groups, T2 hyperintensity in the basal ganglia is very common, and may affect any part of the basal ganglia.
Leukodystrophy, hypomyelinating, 16
MedGen UID:
1631337
Concept ID:
C4693779
Disease or Syndrome
Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.
Mitochondrial complex 1 deficiency, nuclear type 2
MedGen UID:
1648466
Concept ID:
C4748737
Disease or Syndrome
Developmental and epileptic encephalopathy, 77
MedGen UID:
1684735
Concept ID:
C5231405
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Starr et al., 2019). For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Mitochondrial complex 4 deficiency, nuclear type 12
MedGen UID:
1745691
Concept ID:
C5436695
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Professional guidelines

PubMed

Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
El-Badry MM, Samy H, Kabel AM, Rafat FM, Sanyelbhaa H
Acta Otolaryngol 2017 Jul;137(7):720-722. Epub 2017 Apr 27 doi: 10.1080/00016489.2017.1318220. PMID: 28446038

Recent clinical studies

Etiology

Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
Jivraj I, Beres SJ, Liu GT
J Pediatr Ophthalmol Strabismus 2018 May 1;55(3):159-163. Epub 2018 Jan 31 doi: 10.3928/01913913-20171120-01. PMID: 29384562
Jeffery H, Hopkins M, Anderson R, Patel V, Rogers J
Int J Audiol 2017 Dec;56(12):958-966. Epub 2017 Sep 1 doi: 10.1080/14992027.2017.1357841. PMID: 28859528
El-Badry MM, Samy H, Kabel AM, Rafat FM, Sanyelbhaa H
Acta Otolaryngol 2017 Jul;137(7):720-722. Epub 2017 Apr 27 doi: 10.1080/00016489.2017.1318220. PMID: 28446038
Ogawa Y, Otsuka K, Hagiwara A, Inagaki T, Shimizu S, Nagai N, Konomi U, Itani S, Kondo T, Suzuki M
J Laryngol Otol 2016 Jun;130(6):536-40. Epub 2016 Apr 18 doi: 10.1017/S0022215116001079. PMID: 27086942

Diagnosis

Li H, Yang Z
Sensors (Basel) 2023 Feb 1;23(3) doi: 10.3390/s23031592. PMID: 36772631Free PMC Article
Panthagani J, Virdee J, MacDonald T, Bruynseels A, Batra R
Br J Hosp Med (Lond) 2020 Nov 2;81(11):1-8. Epub 2020 Dec 1 doi: 10.12968/hmed.2020.0320. PMID: 33263469
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
Alkan G, Emiroglu M, Kartal A
Indian Pediatr 2018 Dec 15;55(12):1094. PMID: 30745487
Jeffery H, Hopkins M, Anderson R, Patel V, Rogers J
Int J Audiol 2017 Dec;56(12):958-966. Epub 2017 Sep 1 doi: 10.1080/14992027.2017.1357841. PMID: 28859528

Therapy

Vasantha Shekar Reddy H, S Nagabushana D, Kattamanchi D, Dakappa A
BMJ Case Rep 2024 Feb 27;17(2) doi: 10.1136/bcr-2024-259734. PMID: 38417935Free PMC Article
Alkan G, Emiroglu M, Kartal A
Indian Pediatr 2018 Dec 15;55(12):1094. PMID: 30745487
Dominici P, Kopec K, Manur R, Khalid A, Damiron K, Rowden A
J Med Toxicol 2015 Sep;11(3):321-5. doi: 10.1007/s13181-014-0453-9. PMID: 25502414Free PMC Article
Yeakel JK, Logan BK
J Forensic Sci 2013 Jul;58(4):941-5. Epub 2013 May 17 doi: 10.1111/1556-4029.12143. PMID: 23682958
Dieterich M, Grünbauer WM, Brandt T
Neurosci Lett 1998 Mar 27;245(1):29-32. doi: 10.1016/s0304-3940(98)00175-x. PMID: 9596348

Prognosis

Corrado A, Yoshiba G, Buranosky M, Woods Z, Wohrley J, Romantseva L, Wolf A
Pediatrics 2022 Nov 1;150(5) doi: 10.1542/peds.2022-056744. PMID: 36254627
Jivraj I, Beres SJ, Liu GT
J Pediatr Ophthalmol Strabismus 2018 May 1;55(3):159-163. Epub 2018 Jan 31 doi: 10.3928/01913913-20171120-01. PMID: 29384562
Jeffery H, Hopkins M, Anderson R, Patel V, Rogers J
Int J Audiol 2017 Dec;56(12):958-966. Epub 2017 Sep 1 doi: 10.1080/14992027.2017.1357841. PMID: 28859528
Hitier M, Barbier C, Marie-Aude T, Moreau S, Courtheoux P, Patron V
Surg Innov 2014 Aug;21(4):365-71. Epub 2013 Dec 30 doi: 10.1177/1553350613505918. PMID: 24379171
Kim JS, Moon SY, Choi KD, Kim JH, Sharpe JA
Neurology 2007 Apr 3;68(14):1128-35. doi: 10.1212/01.wnl.0000258665.37827.f6. PMID: 17404195

Clinical prediction guides

Li H, Yang Z
Sensors (Basel) 2023 Feb 1;23(3) doi: 10.3390/s23031592. PMID: 36772631Free PMC Article
Choo OS, Kim H, Jang JH, Park HY, Choung YH
Sci Rep 2020 Apr 16;10(1):6514. doi: 10.1038/s41598-020-63630-3. PMID: 32300206Free PMC Article
Jivraj I, Beres SJ, Liu GT
J Pediatr Ophthalmol Strabismus 2018 May 1;55(3):159-163. Epub 2018 Jan 31 doi: 10.3928/01913913-20171120-01. PMID: 29384562
Jeffery H, Hopkins M, Anderson R, Patel V, Rogers J
Int J Audiol 2017 Dec;56(12):958-966. Epub 2017 Sep 1 doi: 10.1080/14992027.2017.1357841. PMID: 28859528
Pierrot-Deseilligny C, Milea D
Brain 2005 Jun;128(Pt 6):1237-46. Epub 2005 May 4 doi: 10.1093/brain/awh532. PMID: 15872015

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