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Rotary nystagmus

MedGen UID:
116106
Concept ID:
C0240595
Disease or Syndrome
Synonyms: Nystagmus, Rotary; Nystagmus, Rotational; Rotary Nystagmus; Rotational Nystagmus
SNOMED CT: Rotational nystagmus (95783006); Rotary nystagmus (44526006); Rotatory nystagmus (44526006)
 
HPO: HP:0001583

Definition

A form of nystagmus in which the eyeball makes rotary motions around the axis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRotary nystagmus

Conditions with this feature

Pelizaeus-Merzbacher disease
MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.
Spinocerebellar ataxia type 5
MedGen UID:
155705
Concept ID:
C0752123
Disease or Syndrome
For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400).
Allan-Herndon-Dudley syndrome
MedGen UID:
208645
Concept ID:
C0795889
Disease or Syndrome
Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures, often with drug resistance. Additional findings can include dysthyroidism (manifest as poor weight gain, reduced muscle mass, and variable cold intolerance, sweating, elevated heart rate, and irritability) and pathognomonic thyroid test results. Most heterozygous females are not clinically affected but may have minor thyroid test abnormalities.
Hypomyelinating leukodystrophy 2
MedGen UID:
325157
Concept ID:
C1837355
Disease or Syndrome
Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability – which, however, can be difficult to evaluate in the context of profound motor impairment.
Joubert syndrome 2
MedGen UID:
334114
Concept ID:
C1842577
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
X-linked intellectual disability-retinitis pigmentosa syndrome
MedGen UID:
336862
Concept ID:
C1845136
Disease or Syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Senior-Loken syndrome 4
MedGen UID:
337697
Concept ID:
C1846979
Disease or Syndrome
Senior-Loken syndrome-4 (SLSN4) is an autosomal recessive disorder characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa (Polak et al., 1983; Schuermann et al., 2002; Otto et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
Methylcobalamin deficiency type cblG
MedGen UID:
344426
Concept ID:
C1855128
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Pyridoxal phosphate-responsive seizures
MedGen UID:
350498
Concept ID:
C1864723
Disease or Syndrome
Untreated pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency, characterized by a range of seizure types, is "classic" (i.e., seizure onset in the neonatal period) in about 90% of affected individuals and "late onset" (seizure onset after the neonatal period) in about 10%. In classic PNPO deficiency, seizures (including status epilepticus) often begin on the first day of life and typically before age two weeks. In both classic and late-onset untreated PNPO deficiency, seizure semiology varies from myoclonic to clonic or tonic seizures, and seizures are typically resistant to common anti-seizure medications. Independent of age of onset, seizures respond to life-long treatment with a B6 vitamer: pyridoxal 5'-phosphate (PLP) in about 60% of affected individuals and pyridoxine (PN) in about 40%. About 60% of individuals with PNPO deficiency have developmental impairment, affecting speech, cognition, and behavior; some individuals have neurologic impairment such as muscular hypotonia or dystonia. Severe neurodevelopmental impairment is more likely to occur in individuals with PNPO deficiency who experienced diagnostic delay and prolonged periods of uncontrolled seizures.
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).
Mitochondrial pyruvate carrier deficiency
MedGen UID:
766521
Concept ID:
C3553607
Disease or Syndrome
Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).
Peroxisome biogenesis disorder 14B
MedGen UID:
766969
Concept ID:
C3554055
Disease or Syndrome
PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported. Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (214100) spectrum' (ZSS) disorder. See PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (614879) for another atypical peroxisome biogenesis disorder.
Hydrocephalus, nonsyndromic, autosomal recessive 2
MedGen UID:
767605
Concept ID:
C3554691
Disease or Syndrome
Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.
Hermansky-Pudlak syndrome 6
MedGen UID:
854714
Concept ID:
C3888007
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Hypomyelinating leukodystrophy 9
MedGen UID:
863760
Concept ID:
C4015323
Disease or Syndrome
Hypomyelinating leukodystrophy-9 (HLD9) is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
TELO2-related intellectual disability-neurodevelopmental disorder
MedGen UID:
934745
Concept ID:
C4310778
Disease or Syndrome
You-Hoover-Fong syndrome (YHFS) is an autosomal recessive disorder with clinical features of global developmental delay, impaired intellectual development, dysmorphic facial features, microcephaly, abnormal movements, and abnormal auditory and visual function (You et al., 2016).
Leukodystrophy, hypomyelinating, 16
MedGen UID:
1631337
Concept ID:
C4693779
Disease or Syndrome
Hypomyelinating leukodystrophy-16 (HLD16) 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.
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
MedGen UID:
1682428
Concept ID:
C5193147
Disease or Syndrome
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity (Mueller et al., 2019). In addition, patients exhibit mild facial dysmorphism (Kutkowska-Kazmierczak et al., 2018).
Retinal dystrophy with leukodystrophy
MedGen UID:
1715138
Concept ID:
C5394315
Disease or Syndrome
Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism (Ferdinandusse et al., 2017).
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
MedGen UID:
1780615
Concept ID:
C5543591
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, often resulting in the inability to walk or sit, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia (summary by Loddo et al., 2020).
Dystonia 34, myoclonic
MedGen UID:
1805016
Concept ID:
C5676907
Disease or Syndrome
Myoclonic dystonia-34 (DYT34) is an autosomal dominant neurologic disorder characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus (Balint et al., 2020).

Professional guidelines

PubMed

Huebner AC, Lytle SR, Doettl SM, Plyler PN, Thelin JT
J Am Acad Audiol 2013 Jul-Aug;24(7):600-6. doi: 10.3766/jaaa.24.7.8. PMID: 24047947

Recent clinical studies

Etiology

Kimura Y, Kaga K
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111303. Epub 2022 Sep 15 doi: 10.1016/j.ijporl.2022.111303. PMID: 36137473
Seltzer JA, Sheth SK, Friedland S, Foreman E, Toney C, Raviendran R, McDaniel MA, Lasoff DR
Am J Emerg Med 2022 Nov;61:233.e1-233.e2. Epub 2022 Aug 8 doi: 10.1016/j.ajem.2022.08.006. PMID: 35989201
Quenzer F, Smyres C, Tabarez N, Singh S, LaFree A, Tomaszewski C, Hayden SR
J Emerg Med 2021 Jul;61(1):29-36. Epub 2021 Feb 9 doi: 10.1016/j.jemermed.2021.02.004. PMID: 33863570Free PMC Article
Carson TB, Wilkes BJ, Patel K, Pineda JL, Ko JH, Newell KM, Bodfish JW, Schubert MC, Radonovich K, White KD, Lewis MH
Autism Res 2017 Feb;10(2):251-266. Epub 2016 May 25 doi: 10.1002/aur.1642. PMID: 27220548
Huebner AC, Lytle SR, Doettl SM, Plyler PN, Thelin JT
J Am Acad Audiol 2013 Jul-Aug;24(7):600-6. doi: 10.3766/jaaa.24.7.8. PMID: 24047947

Diagnosis

Zubčić Ž, Včeva A, Mendeš T, Maleš J, Mihalj H, Vidić H, Rezo M, Abičić I, Prpić T, Šestak A
Acta Clin Croat 2022 Nov;61(3):547-550. doi: 10.20471/acc.2022.61.03.22. PMID: 37492369Free PMC Article
Kimura Y, Kaga K
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111303. Epub 2022 Sep 15 doi: 10.1016/j.ijporl.2022.111303. PMID: 36137473
Huebner AC, Lytle SR, Doettl SM, Plyler PN, Thelin JT
J Am Acad Audiol 2013 Jul-Aug;24(7):600-6. doi: 10.3766/jaaa.24.7.8. PMID: 24047947
Yudcovitch LB, Lahiff JM, Ochiltree AJ
Clin Exp Optom 2008 Mar;91(2):187-92. doi: 10.1111/j.1444-0938.2007.00213.x. PMID: 18271783
Gonzalez C, Seth RK, Ramos-Esteban JC
Binocul Vis Strabismus Q 2007;22(3):179-84. PMID: 17983352

Therapy

Klotz SA, Yates S, Smith SL, Dudley S Jr, Schmidt JO, Shirazi FM
Am J Med 2021 Aug;134(8):1034-1038. Epub 2021 Feb 22 doi: 10.1016/j.amjmed.2021.01.025. PMID: 33631163
Kanclerz P, Grzybowski A
Rom J Ophthalmol 2019 Oct-Dec;63(4):383-386. PMID: 31915739Free PMC Article
Hawthorne KM, Compton CJ, Vaphiades MS, Roberson GH, Kline LB
J Neuroophthalmol 2009 Dec;29(4):296-9. doi: 10.1097/WNO.0b013e3181c25390. PMID: 19952903
O'Donnell J, Bateman DN
J Toxicol Clin Toxicol 2000;38(6):659-60. doi: 10.1081/clt-100102017. PMID: 11185974

Prognosis

Mitchell AN, Bakhos CT, Zimmerman EA
J Clin Neurosci 2015 Feb;22(2):421-3. Epub 2014 Oct 13 doi: 10.1016/j.jocn.2014.06.103. PMID: 25443085
Yudcovitch LB, Lahiff JM, Ochiltree AJ
Clin Exp Optom 2008 Mar;91(2):187-92. doi: 10.1111/j.1444-0938.2007.00213.x. PMID: 18271783
Schornack MM, Brown WL, Siemsen DW
Optometry 2007 Jan;78(1):17-22. doi: 10.1016/j.optm.2006.07.012. PMID: 17208670
Musarella MA
J AAPOS 2001 Aug;5(4):262-4. doi: 10.1067/mpa.2001.115592. PMID: 11507589
Schmitt HP, Härle M, Koelfen W, Nissen KH
Brain Dev 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. PMID: 7892958

Clinical prediction guides

Kimura Y, Kaga K
Int J Pediatr Otorhinolaryngol 2022 Nov;162:111303. Epub 2022 Sep 15 doi: 10.1016/j.ijporl.2022.111303. PMID: 36137473
Carson TB, Wilkes BJ, Patel K, Pineda JL, Ko JH, Newell KM, Bodfish JW, Schubert MC, Radonovich K, White KD, Lewis MH
Autism Res 2017 Feb;10(2):251-266. Epub 2016 May 25 doi: 10.1002/aur.1642. PMID: 27220548
Huebner AC, Lytle SR, Doettl SM, Plyler PN, Thelin JT
J Am Acad Audiol 2013 Jul-Aug;24(7):600-6. doi: 10.3766/jaaa.24.7.8. PMID: 24047947
Hallberg A, Standring RT, Ahsan S
JAMA Otolaryngol Head Neck Surg 2013 Jun;139(6):639-42. doi: 10.1001/jamaoto.2013.3283. PMID: 23787425
Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S
Am J Hum Genet 2004 Jan;74(1):168-75. Epub 2003 Dec 5 doi: 10.1086/380999. PMID: 14661163Free PMC Article

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