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Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3(CAMRQ3)

MedGen UID:
442496
Concept ID:
C2750509
Disease or Syndrome
Synonyms: CAMRQ3; CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
 
Gene (location): CA8 (8q12.1)
 
Monarch Initiative: MONDO:0013188
OMIM®: 613227

Definition

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). [from OMIM]

Clinical features

From HPO
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.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Slurred speech
MedGen UID:
65885
Concept ID:
C0234518
Finding
Abnormal coordination of muscles involved in speech.
Cerebellar ataxia associated with quadrupedal gait
MedGen UID:
869746
Concept ID:
C4024175
Finding
The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).
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.

Recent clinical studies

Etiology

Teggi R, Trimarchi M, Gatti O, Fornasari F, Bussi M
ORL J Otorhinolaryngol Relat Spec 2017;79(3):178-184. Epub 2017 May 10 doi: 10.1159/000473894. PMID: 28486231
Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R
J Neurol Neurosurg Psychiatry 2016 Jun;87(6):656-62. Epub 2015 Jul 8 doi: 10.1136/jnnp-2014-309828. PMID: 26157035
Luni FK, Khan AR, Yoon Y, Malhotra D, Vetteth S
Am J Med Sci 2015 May;349(5):438-41. doi: 10.1097/MAJ.0000000000000445. PMID: 25798830

Diagnosis

Teggi R, Trimarchi M, Gatti O, Fornasari F, Bussi M
ORL J Otorhinolaryngol Relat Spec 2017;79(3):178-184. Epub 2017 May 10 doi: 10.1159/000473894. PMID: 28486231

Therapy

Luni FK, Khan AR, Yoon Y, Malhotra D, Vetteth S
Am J Med Sci 2015 May;349(5):438-41. doi: 10.1097/MAJ.0000000000000445. PMID: 25798830

Prognosis

Richmond CM, Leventer R, Ryan MM, Delatycki MB
Clin Genet 2020 Mar;97(3):516-520. Epub 2019 Nov 14 doi: 10.1111/cge.13666. PMID: 31693170
Teggi R, Trimarchi M, Gatti O, Fornasari F, Bussi M
ORL J Otorhinolaryngol Relat Spec 2017;79(3):178-184. Epub 2017 May 10 doi: 10.1159/000473894. PMID: 28486231
Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM
Neurogenetics 2016 Jul;17(3):191-5. Epub 2016 Jun 2 doi: 10.1007/s10048-016-0488-y. PMID: 27251579
Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T
Eur J Hum Genet 2013 Mar;21(3):281-5. Epub 2012 Aug 15 doi: 10.1038/ejhg.2012.170. PMID: 22892528Free PMC Article
Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L
BMC Med Genet 2012 Sep 14;13:80. doi: 10.1186/1471-2350-13-80. PMID: 22973972Free PMC Article

Clinical prediction guides

Paternoster L, Soblet J, Aeby A, De Tiège X, Goldman S, Yue WW, Coppens S, Smits G, Vilain C, Deconinck N
Am J Med Genet A 2020 Nov;182(11):2685-2693. Epub 2020 Aug 18 doi: 10.1002/ajmg.a.61805. PMID: 32808436
Richmond CM, Leventer R, Ryan MM, Delatycki MB
Clin Genet 2020 Mar;97(3):516-520. Epub 2019 Nov 14 doi: 10.1111/cge.13666. PMID: 31693170
Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM
Neurogenetics 2016 Jul;17(3):191-5. Epub 2016 Jun 2 doi: 10.1007/s10048-016-0488-y. PMID: 27251579
Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L
BMC Med Genet 2012 Sep 14;13:80. doi: 10.1186/1471-2350-13-80. PMID: 22973972Free PMC Article
Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW
Eur J Hum Genet 2008 Feb;16(2):270-3. Epub 2007 Nov 28 doi: 10.1038/sj.ejhg.5201967. PMID: 18043714

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