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Hypometric saccades

MedGen UID:
98065
Concept ID:
C0423082
Finding
SNOMED CT: Hypometric saccades (246768008)
 
HPO: HP:0000571

Definition

Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. [from HPO]

Term Hierarchy

Conditions with this feature

Joubert syndrome with renal defect
MedGen UID:
335526
Concept ID:
C1846790
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.
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
MedGen UID:
395301
Concept ID:
C1859598
Disease or Syndrome
Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed.
Episodic ataxia type 6
MedGen UID:
390739
Concept ID:
C2675211
Disease or Syndrome
An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Hypomyelinating leukodystrophy 6
MedGen UID:
436642
Concept ID:
C2676244
Disease or Syndrome
TUBB4A-related leukodystrophy comprises a phenotypic spectrum in which the MRI findings range from hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) at the severe end to isolated hypomyelination at the mild end. Progressive neurologic findings reflect involvement of the pyramidal tracts (spasticity, brisk deep tendon reflexes, and Babinski sign), extrapyramidal system (rigidity, dystonia, choreoathetosis, oculogyric crisis, and perioral dyskinesia), cerebellum (ataxia, intention tremor, dysmetria), and bulbar function (dysarthria, dysphonia, and swallowing). Cognition is variably affected, usually less severely than motor function. Typically, those with H-ABC present in early childhood (ages 1-3 years) and those with isolated hypomyelination in later childhood or adulthood. The rate of progression varies with disease severity.
Autosomal recessive spinocerebellar ataxia 13
MedGen UID:
766730
Concept ID:
C3553816
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (Guergueltcheva et al., 2012).
Juvenile onset Parkinson disease 19A
MedGen UID:
816141
Concept ID:
C3809811
Disease or Syndrome
DNAJC6 Parkinson disease is a complex early-onset neurologic disorder whose core features are typical parkinsonian symptoms including bradykinesia, resting tremor, rigidity, and postural instability. The majority of individuals have juvenile onset and develop symptoms before age 21 years. Developmental delay, intellectual disability, seizures, other movement disorders (e.g., dystonia, spasticity, myoclonus), and neuropsychiatric features occur in the majority of individuals with juvenile onset and often precede parkinsonism. The onset of parkinsonian features usually occurs toward the end of the first or beginning of the second decade and the disease course is rapidly progressive with loss of ambulation in mid-adolescence in the majority of individuals. Additional features include gastrointestinal manifestations and bulbar dysfunction. A minority of individuals with DNAJC6 Parkinson disease develop early-onset parkinsonism with symptom onset in the third to fourth decade and absence of additional neurologic features.
Ataxia-telangiectasia-like disorder 1
MedGen UID:
861227
Concept ID:
C4012790
Disease or Syndrome
Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder See also ATLD2 (615919), caused by mutation in the PCNA gene (176740) on chromosome 20p12.
Spinocerebellar ataxia 43
MedGen UID:
934730
Concept ID:
C4310763
Disease or Syndrome
Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
MedGen UID:
1382553
Concept ID:
C4479653
Disease or Syndrome
NKX6-2-related disorder is characterized by a spectrum of progressive neurologic manifestations resulting from diffuse central nervous system hypomyelination. At the severe end of the spectrum is neonatal-onset nystagmus, severe spastic tetraplegia with joint contractures and scoliosis, and visual and hearing impairment, all of which rapidly progress resulting in death in early childhood. At the milder end of the spectrum is normal achievement of early motor milestones in the first year of life followed by slowly progressive complex spastic ataxia with pyramidal findings (spasticity with increased muscle tone and difficulty with gait and fine motor coordination) and cerebellar findings (nystagmus, extraocular movement disorder, dysarthria, titubation, and ataxia) with loss of developmental milestones. To date NKX6-2-related disorder has been reported in 25 individuals from 13 families.
Autosomal recessive spinocerebellar ataxia 14
MedGen UID:
1636182
Concept ID:
C4706415
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and impaired intellectual development (summary by Lise et al., 2012).
Basal ganglia calcification, idiopathic, 7, autosomal recessive
MedGen UID:
1683911
Concept ID:
C5193025
Disease or Syndrome
Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by Yao et al., 2018). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
Coenzyme q10 deficiency, primary, 9
MedGen UID:
1740444
Concept ID:
C5436638
Disease or Syndrome
Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).
Dystonia 22, juvenile-onset
MedGen UID:
1841281
Concept ID:
C5830645
Disease or Syndrome
Juvenile-onset dystonia-22 (DYT22JO) is an autosomal recessive disorder characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging (Mencacci et al., 2021).

Professional guidelines

PubMed

Shurupova MA, Latanov AV
Cerebellum 2024 Apr;23(2):444-454. Epub 2023 Mar 31 doi: 10.1007/s12311-023-01553-1. PMID: 37000368

Recent clinical studies

Etiology

Myers B, Creegan D, Hoyos E
J Am Acad Audiol 2020 Sep;31(8):620-626. Epub 2020 Apr 27 doi: 10.1055/s-0040-1709443. PMID: 32340052
Visser F, Bour LJ, Lee YX, Ten Brinke TR, van Rootselaar AF
Clin Neurophysiol 2019 May;130(5):683-691. Epub 2019 Feb 23 doi: 10.1016/j.clinph.2019.01.026. PMID: 30875535
Panouillères M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pélisson D, Tilikete C
Cerebellum 2013 Aug;12(4):557-67. doi: 10.1007/s12311-013-0463-1. PMID: 23475383
Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX
Am J Ophthalmol 2002 Dec;134(6):891-6. doi: 10.1016/s0002-9394(02)01796-8. PMID: 12470759
Bötzel K, Rottach K, Büttner U
Brain 1993 Apr;116 ( Pt 2):337-53. doi: 10.1093/brain/116.2.337. PMID: 8461969

Diagnosis

Shurupova MA, Latanov AV
Cerebellum 2024 Apr;23(2):444-454. Epub 2023 Mar 31 doi: 10.1007/s12311-023-01553-1. PMID: 37000368
Szpisjak L, Szaraz G, Salamon A, Nemeth VL, Szepfalusi N, Veres G, Kincses B, Maroti Z, Kalmar T, Rydzanicz M, Ploski R, Klivenyi P, Zadori D
BMC Neurosci 2021 Feb 1;22(1):7. doi: 10.1186/s12868-021-00612-9. PMID: 33526008Free PMC Article
Visser F, Bour LJ, Lee YX, Ten Brinke TR, van Rootselaar AF
Clin Neurophysiol 2019 May;130(5):683-691. Epub 2019 Feb 23 doi: 10.1016/j.clinph.2019.01.026. PMID: 30875535
Marple-Horvat DE, Crowdy KA
Gait Posture 2005 Jan;21(1):39-47. doi: 10.1016/j.gaitpost.2003.11.007. PMID: 15536032
Bötzel K, Rottach K, Büttner U
Brain 1993 Apr;116 ( Pt 2):337-53. doi: 10.1093/brain/116.2.337. PMID: 8461969

Therapy

Mariani LL, Rivaud-Péchoux S, Charles P, Ewenczyk C, Meneret A, Monga BB, Fleury MC, Hainque E, Maisonobe T, Degos B, Echaniz-Laguna A, Renaud M, Wirth T, Grabli D, Brice A, Vidailhet M, Stoppa-Lyonnet D, Dubois-d'Enghien C, Le Ber I, Koenig M, Roze E, Tranchant C, Durr A, Gaymard B, Anheim M
Sci Rep 2017 Nov 10;7(1):15284. doi: 10.1038/s41598-017-15127-9. PMID: 29127364Free PMC Article
Panouillères M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pélisson D, Tilikete C
Cerebellum 2013 Aug;12(4):557-67. doi: 10.1007/s12311-013-0463-1. PMID: 23475383
Bhutani N, Ray S, Murthy A
J Neurophysiol 2012 Dec;108(12):3161-71. Epub 2012 Sep 26 doi: 10.1152/jn.00344.2012. PMID: 23018999
Hutton SB, Cuthbert I, Crawford TJ, Kennard C, Barnes TR, Joyce EM
Psychophysiology 2001 Jan;38(1):125-32. PMID: 11321613
Everling S, Krappmann P, Preuss S, Brand A, Flohr H
Exp Brain Res 1996 Sep;111(2):289-95. doi: 10.1007/BF00227306. PMID: 8891659

Prognosis

Buonocore A, McIntosh RD, Melcher D
J Neurophysiol 2016 Feb 1;115(2):752-62. Epub 2015 Dec 2 doi: 10.1152/jn.00939.2015. PMID: 26631151
Wictorin K, Brådvik B, Nilsson K, Soller M, van Westen D, Bynke G, Bauer P, Schöls L, Puschmann A
Parkinsonism Relat Disord 2014 Jul;20(7):748-54. Epub 2014 Apr 13 doi: 10.1016/j.parkreldis.2014.03.029. PMID: 24787759
Akerfelt A, Colonius H, Diederich A
Exp Brain Res 2006 Mar;169(4):554-63. Epub 2005 Nov 18 doi: 10.1007/s00221-005-0168-x. PMID: 16328301
Mezey LE, Harris CM, Shawkat FS, Timms C, Kriss A, West P, Taylor DS
Dev Med Child Neurol 1998 Sep;40(9):626-30. doi: 10.1111/j.1469-8749.1998.tb15429.x. PMID: 9766741
Sharpe JA, Zackon DH
Acta Otolaryngol 1987 Nov-Dec;104(5-6):422-8. doi: 10.3109/00016488709128270. PMID: 3434263

Clinical prediction guides

Divya KP, Cherian A, Dhing HK, Kumar S, Thomas B, Faruq M
Acta Neurol Belg 2024 Apr;124(2):475-484. Epub 2023 Oct 29 doi: 10.1007/s13760-023-02400-0. PMID: 37898963
Shurupova MA, Latanov AV
Cerebellum 2024 Apr;23(2):444-454. Epub 2023 Mar 31 doi: 10.1007/s12311-023-01553-1. PMID: 37000368
Szpisjak L, Szaraz G, Salamon A, Nemeth VL, Szepfalusi N, Veres G, Kincses B, Maroti Z, Kalmar T, Rydzanicz M, Ploski R, Klivenyi P, Zadori D
BMC Neurosci 2021 Feb 1;22(1):7. doi: 10.1186/s12868-021-00612-9. PMID: 33526008Free PMC Article
Akerfelt A, Colonius H, Diederich A
Exp Brain Res 2006 Mar;169(4):554-63. Epub 2005 Nov 18 doi: 10.1007/s00221-005-0168-x. PMID: 16328301
Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX
Am J Ophthalmol 2002 Dec;134(6):891-6. doi: 10.1016/s0002-9394(02)01796-8. PMID: 12470759

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