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Spinocerebellar ataxia type 5(SCA5)

MedGen UID:
155705
Concept ID:
C0752123
Disease or Syndrome
Synonym: SCA5
SNOMED CT: Spinocerebellar ataxia type 5 (719302009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SPTBN2 (11q13.2)
 
Monarch Initiative: MONDO:0010848
OMIM®: 600224
Orphanet: ORPHA98766

Definition

For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400). [from OMIM]

Clinical features

From HPO
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Facial myokymia
MedGen UID:
78741
Concept ID:
C0270871
Disease or Syndrome
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Finding
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Upper motor neuron dysfunction
MedGen UID:
333241
Concept ID:
C1839042
Pathologic Function
A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Rotary nystagmus
MedGen UID:
116106
Concept ID:
C0240595
Disease or Syndrome
A form of nystagmus in which the eyeball makes rotary motions around the axis.
Impaired smooth pursuit
MedGen UID:
325176
Concept ID:
C1837458
Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
Horizontal jerk nystagmus
MedGen UID:
870464
Concept ID:
C4024910
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 5
Follow this link to review classifications for Spinocerebellar ataxia type 5 in Orphanet.

Professional guidelines

PubMed

Guhathakurta P, Rebbeck RT, Denha SA, Keller AR, Carter AL, Atang AE, Svensson B, Thomas DD, Hays TS, Avery AW
J Biol Chem 2023 Mar;299(3):102956. Epub 2023 Jan 31 doi: 10.1016/j.jbc.2023.102956. PMID: 36731793Free PMC Article

Recent clinical studies

Etiology

Finkel RS, Day JW, Pascual Pascual SI, Ryan MM, Mercuri E, De Vivo DC, Montes J, Gurgel-Giannetti J, Monine M, Gambino G, Makepeace C, Foster R, Berger Z; DEVOTE Study Group
J Neuromuscul Dis 2023;10(5):813-823. doi: 10.3233/JND-221667. PMID: 37393513Free PMC Article
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W
Lancet Child Adolesc Health 2021 Jul;5(7):491-500. Epub 2021 Jun 3 doi: 10.1016/S2352-4642(21)00100-0. PMID: 34089650
Bian X, Wang S, Jin S, Xu S, Zhang H, Wang D, Shang W, Wang P
Neurol Sci 2021 Dec;42(12):5195-5203. Epub 2021 Apr 2 doi: 10.1007/s10072-021-05204-3. PMID: 33797620Free PMC Article
Machnicka B, Czogalla A, Hryniewicz-Jankowska A, Bogusławska DM, Grochowalska R, Heger E, Sikorski AF
Biochim Biophys Acta 2014 Feb;1838(2):620-34. Epub 2013 May 11 doi: 10.1016/j.bbamem.2013.05.002. PMID: 23673272
Bird TD, Lipe HP, Steinbart EJ
Arch Neurol 2008 Apr;65(4):537-9. doi: 10.1001/archneur.65.4.537. PMID: 18413479Free PMC Article

Diagnosis

Benevides ML, França M Jr
Neuropediatrics 2022 Oct;53(5):358-360. Epub 2022 May 11 doi: 10.1055/a-1849-8128. PMID: 35545114
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W
Lancet Child Adolesc Health 2021 Jul;5(7):491-500. Epub 2021 Jun 3 doi: 10.1016/S2352-4642(21)00100-0. PMID: 34089650
Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G
Clin Genet 2019 Aug;96(2):169-175. Epub 2019 Jun 5 doi: 10.1111/cge.13562. PMID: 31066025
Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS
J Child Neurol 2013 Oct;28(10):1292-5. Epub 2012 Aug 21 doi: 10.1177/0883073812454331. PMID: 22914369
Bird TD, Lipe HP, Steinbart EJ
Arch Neurol 2008 Apr;65(4):537-9. doi: 10.1001/archneur.65.4.537. PMID: 18413479Free PMC Article

Therapy

Finkel RS, Day JW, Pascual Pascual SI, Ryan MM, Mercuri E, De Vivo DC, Montes J, Gurgel-Giannetti J, Monine M, Gambino G, Makepeace C, Foster R, Berger Z; DEVOTE Study Group
J Neuromuscul Dis 2023;10(5):813-823. doi: 10.3233/JND-221667. PMID: 37393513Free PMC Article
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W
Lancet Child Adolesc Health 2021 Jul;5(7):491-500. Epub 2021 Jun 3 doi: 10.1016/S2352-4642(21)00100-0. PMID: 34089650

Prognosis

Finkel RS, Day JW, Pascual Pascual SI, Ryan MM, Mercuri E, De Vivo DC, Montes J, Gurgel-Giannetti J, Monine M, Gambino G, Makepeace C, Foster R, Berger Z; DEVOTE Study Group
J Neuromuscul Dis 2023;10(5):813-823. doi: 10.3233/JND-221667. PMID: 37393513Free PMC Article
Finkel RS, Ryan MM, Pascual Pascual SI, Day JW, Mercuri E, De Vivo DC, Foster R, Montes J, Gurgel-Giannetti J, MacCannell D, Berger Z
Ann Clin Transl Neurol 2022 Jun;9(6):819-829. Epub 2022 May 13 doi: 10.1002/acn3.51562. PMID: 35567345Free PMC Article
Bian X, Wang S, Jin S, Xu S, Zhang H, Wang D, Shang W, Wang P
Neurol Sci 2021 Dec;42(12):5195-5203. Epub 2021 Apr 2 doi: 10.1007/s10072-021-05204-3. PMID: 33797620Free PMC Article
Avery AW, Crain J, Thomas DD, Hays TS
Sci Rep 2016 Feb 17;6:21375. doi: 10.1038/srep21375. PMID: 26883385Free PMC Article
Kitamura E, Hosoda F, Fukushima M, Asakawa S, Shimizu N, Imai T, Soeda E, Ohki M
DNA Res 1997 Aug 31;4(4):281-9. doi: 10.1093/dnares/4.4.281. PMID: 9405936

Clinical prediction guides

Finkel RS, Day JW, Pascual Pascual SI, Ryan MM, Mercuri E, De Vivo DC, Montes J, Gurgel-Giannetti J, Monine M, Gambino G, Makepeace C, Foster R, Berger Z; DEVOTE Study Group
J Neuromuscul Dis 2023;10(5):813-823. doi: 10.3233/JND-221667. PMID: 37393513Free PMC Article
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W
Lancet Child Adolesc Health 2021 Jul;5(7):491-500. Epub 2021 Jun 3 doi: 10.1016/S2352-4642(21)00100-0. PMID: 34089650
Bian X, Wang S, Jin S, Xu S, Zhang H, Wang D, Shang W, Wang P
Neurol Sci 2021 Dec;42(12):5195-5203. Epub 2021 Apr 2 doi: 10.1007/s10072-021-05204-3. PMID: 33797620Free PMC Article
Bird TD, Lipe HP, Steinbart EJ
Arch Neurol 2008 Apr;65(4):537-9. doi: 10.1001/archneur.65.4.537. PMID: 18413479Free PMC Article
Bürk K, Zühlke C, König IR, Ziegler A, Schwinger E, Globas C, Dichgans J, Hellenbroich Y
Neurology 2004 Jan 27;62(2):327-9. doi: 10.1212/01.wnl.0000103293.63340.c1. PMID: 14745083

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