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Autosomal recessive spinocerebellar ataxia 10(SCAR10)

MedGen UID:
462348
Concept ID:
C3150998
Disease or Syndrome
Synonyms: SCAR10; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SNOMED CT: SCAR10 - autosomal recessive spinocerebellar ataxia type 10 (785302009); Adult-onset autosomal recessive cerebellar ataxia (785302009); Autosomal recessive spinocerebellar ataxia type 10 (785302009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ANO10 (3p22.1-21.33)
 
Monarch Initiative: MONDO:0013392
OMIM®: 613728
Orphanet: ORPHA284289

Definition

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). [from OMIM]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
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.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
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.
Hyperactive patellar reflex
MedGen UID:
66003
Concept ID:
C0240116
Finding
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
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.
Hyperreflexia in upper limbs
MedGen UID:
375112
Concept ID:
C1843175
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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).
Hyperactive Achilles reflex
MedGen UID:
1756653
Concept ID:
C5421683
Finding
Increased intensity of the Achilles reflex.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.
Downbeat nystagmus
MedGen UID:
154401
Concept ID:
C0585544
Finding
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Tortuosity of conjunctival vessels
MedGen UID:
344487
Concept ID:
C1855391
Finding
The presence of an increased number of twists and turns of the conjunctival blood vessels.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive spinocerebellar ataxia 10
Follow this link to review classifications for Autosomal recessive spinocerebellar ataxia 10 in Orphanet.

Recent clinical studies

Etiology

Votsi C, Zamba-Papanicolaou E, Georghiou A, Kyriakides T, Papacostas S, Kleopa KA, Pantzaris M, Christodoulou K
J Neurol Sci 2012 Dec 15;323(1-2):154-7. Epub 2012 Sep 29 doi: 10.1016/j.jns.2012.09.006. PMID: 23026538

Diagnosis

Nieto A, Pérez-Flores J, Corral-Juan M, Matilla-Dueñas A, Martínez-Burgallo F, Montón F
Neurocase 2019 Oct;25(5):195-201. Epub 2019 Aug 19 doi: 10.1080/13554794.2019.1655064. PMID: 31423897
Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R
J Neurol 2014 Nov;261(11):2192-8. Epub 2014 Sep 3 doi: 10.1007/s00415-014-7476-7. PMID: 25182700Free PMC Article

Clinical prediction guides

Nieto A, Pérez-Flores J, Corral-Juan M, Matilla-Dueñas A, Martínez-Burgallo F, Montón F
Neurocase 2019 Oct;25(5):195-201. Epub 2019 Aug 19 doi: 10.1080/13554794.2019.1655064. PMID: 31423897

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