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Hypermetric saccades

MedGen UID:
140835
Concept ID:
C0423083
Finding
SNOMED CT: Hypermetric saccades (246769000)
 
HPO: HP:0007338

Definition

A saccade that overshoots the target with the dynamic saccade. [from HPO]

Term Hierarchy

Conditions with this feature

Autosomal recessive spinocerebellar ataxia 7
MedGen UID:
324520
Concept ID:
C1836474
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015).
Spinocerebellar ataxia type 20
MedGen UID:
373352
Concept ID:
C1837541
Disease or Syndrome
Spinocerebellar ataxia type 20 (SCA20) is characterized by a slowly progressive ataxia and dysarthria. Approximately two thirds of those affected also display palatal tremor ("myoclonus") and/or abnormal phonation clinically resembling spasmodic adductor dysphonia. Dysarthria, which may be abrupt in onset, precedes the onset of ataxia in about two thirds of affected individuals, sometimes by a number of years. Hypermetric horizontal saccades (without nystagmus or disturbance of vestibulo-ocular reflex gain) are seen in about half of affected persons. Although minor pyramidal signs (brisk knee jerks, crossed adductor spread) may be seen, spasticity and extensor plantar responses are not. Cognition is normal. Clinical information is based on the findings in 16 personally examined affected members of a single Australian family of Anglo-Celtic descent.
Spinocerebellar ataxia type 21
MedGen UID:
375311
Concept ID:
C1843891
Disease or Syndrome
Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
MedGen UID:
335442
Concept ID:
C1846492
Disease or Syndrome
VPS13D movement disorder is a hyperkinetic movement disorder (dystonia, chorea, and/or ataxia) of variable age of onset that can be associated with developmental delay. Onset ranges from birth to adulthood. Individuals can present in childhood with motor delays and gait instability. Cognitive impairment ranging from mild intellectual disability to developmental delay has been reported, and several individuals have normal cognitive function. Individuals have also presented as young adults with gait difficulties caused by spastic ataxia or ataxia. In addition to gait ataxia, affected individuals had limb ataxia, dysarthria, and eye movement abnormalities (macro-saccadic oscillations, nystagmus, and saccadic pursuit). Additional features reported in some individuals include peripheral neuropathy and/or seizures. The disorder progresses to spastic ataxia or generalized dystonia, which can lead to loss of independent ambulation.
Spinocerebellar ataxia type 30
MedGen UID:
424821
Concept ID:
C2936793
Disease or Syndrome
A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.
Autosomal recessive spinocerebellar ataxia 10
MedGen UID:
462348
Concept ID:
C3150998
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).
Spinocerebellar ataxia 44
MedGen UID:
1611168
Concept ID:
C4521563
Disease or Syndrome
Spinocerebellar ataxia, autosomal recessive 26
MedGen UID:
1617917
Concept ID:
C4539948
Disease or Syndrome
Spinocerebellar ataxia, autosomal recessive 27
MedGen UID:
1672866
Concept ID:
C5193058
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018).
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).
Spinocerebellar ataxia, autosomal recessive 32
MedGen UID:
1802496
Concept ID:
C5676978
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo 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

Autier L, Gaymard B, Bayen E, Del Cul A, Cohen-Aubart F, Martin-Duverneuil N, Haroche J, Mokhtari K, Héritier S, Donadieu J, Hoang-Xuan K, Idbaih A
Neurol Sci 2022 Nov;43(11):6539-6546. Epub 2022 Jun 28 doi: 10.1007/s10072-022-06180-y. PMID: 35760933
Stephen CD, Schmahmann JD
Cerebellum 2019 Dec;18(6):1130-1136. doi: 10.1007/s12311-019-01044-2. PMID: 31175630
Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, Navarro V, Roze E, Gourfinkel-An I, Apartis E
Rev Neurol (Paris) 2018 Jan-Feb;174(1-2):56-65. Epub 2017 Jul 5 doi: 10.1016/j.neurol.2017.06.005. PMID: 28688606
van der Geest JN, Lagers-van Haselen GC, van Hagen JM, Govaerts LC, de Coo IF, de Zeeuw CI, Frens MA
Neuropsychologia 2004;42(5):569-76. doi: 10.1016/j.neuropsychologia.2003.11.003. PMID: 14725795
Helmchen C, Straube A, Büttner U
J Neurol 1994 Jun;241(7):421-6. doi: 10.1007/BF00900959. PMID: 7931442

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
Autier L, Gaymard B, Bayen E, Del Cul A, Cohen-Aubart F, Martin-Duverneuil N, Haroche J, Mokhtari K, Héritier S, Donadieu J, Hoang-Xuan K, Idbaih A
Neurol Sci 2022 Nov;43(11):6539-6546. Epub 2022 Jun 28 doi: 10.1007/s10072-022-06180-y. PMID: 35760933
Stephen CD, Schmahmann JD
Cerebellum 2019 Dec;18(6):1130-1136. doi: 10.1007/s12311-019-01044-2. PMID: 31175630
Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, Navarro V, Roze E, Gourfinkel-An I, Apartis E
Rev Neurol (Paris) 2018 Jan-Feb;174(1-2):56-65. Epub 2017 Jul 5 doi: 10.1016/j.neurol.2017.06.005. PMID: 28688606
Kulahli I, Balci K, Koseoglu E, Yuce I, Cagli S, Senturk M
Hear Res 2005 May;203(1-2):28-31. doi: 10.1016/j.heares.2004.11.020. PMID: 15855027

Therapy

Van Bogaert P, Van Nechel C, Goldman S, Szliwowski HB
Acta Neurol Belg 1993;93(5):268-75. PMID: 8296522

Prognosis

Stephen CD, Schmahmann JD
Cerebellum 2019 Dec;18(6):1130-1136. doi: 10.1007/s12311-019-01044-2. PMID: 31175630
Kulahli I, Balci K, Koseoglu E, Yuce I, Cagli S, Senturk M
Hear Res 2005 May;203(1-2):28-31. doi: 10.1016/j.heares.2004.11.020. PMID: 15855027

Clinical prediction guides

Shurupova MA, Latanov AV
Cerebellum 2024 Apr;23(2):444-454. Epub 2023 Mar 31 doi: 10.1007/s12311-023-01553-1. PMID: 37000368
Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ
J Neurol Neurosurg Psychiatry 2009 Apr;80(4):408-11. Epub 2008 Nov 7 doi: 10.1136/jnnp.2008.159459. PMID: 18996908
Storey E, Knight MA, Forrest SM, Gardner RJ
Cerebellum 2005;4(1):55-7. doi: 10.1080/14734220410019048. PMID: 15895561
Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E
Brain 2004 May;127(Pt 5):1172-81. Epub 2004 Mar 3 doi: 10.1093/brain/awh139. PMID: 14998916
van der Geest JN, Lagers-van Haselen GC, van Hagen JM, Govaerts LC, de Coo IF, de Zeeuw CI, Frens MA
Neuropsychologia 2004;42(5):569-76. doi: 10.1016/j.neuropsychologia.2003.11.003. PMID: 14725795

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