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Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4(CAMRQ4)

MedGen UID:
815307
Concept ID:
C3808977
Disease or Syndrome
Synonyms: CAMRQ4; CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4; Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
 
Gene (location): ATP8A2 (13q12.13)
 
Monarch Initiative: MONDO:0014104
OMIM®: 615268

Definition

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

Clinical features

From HPO
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.
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.
Corpus callosum atrophy
MedGen UID:
96560
Concept ID:
C0431370
Finding
The presence of atrophy (wasting) of the corpus callosum.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
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.
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.
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).
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.

Recent clinical studies

Etiology

Zhang Y, Ni Y, Li L
Drug Alcohol Depend 2024 Jan 1;254:111037. Epub 2023 Nov 23 doi: 10.1016/j.drugalcdep.2023.111037. PMID: 38016197
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
Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR
Dev Med Child Neurol 2005 Oct;47(10):691-5. doi: 10.1017/S0012162205001404. PMID: 16174313

Diagnosis

Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R
Mov Disord 2024 Jun;39(6):983-995. Epub 2024 Apr 6 doi: 10.1002/mds.29754. PMID: 38581205
Zhang Y, Ni Y, Li L
Drug Alcohol Depend 2024 Jan 1;254:111037. Epub 2023 Nov 23 doi: 10.1016/j.drugalcdep.2023.111037. PMID: 38016197
Mohamadian M, Ghandil P, Naseri M, Bahrami A, Momen AA
J Clin Lab Anal 2020 Nov;34(11):e23484. Epub 2020 Jul 17 doi: 10.1002/jcla.23484. PMID: 33079427Free PMC Article
Barona-Lleo L, Zulueta-Santos C, Murie-Fernandez M, Pérez-Fernández N
Am J Otolaryngol 2014 Jul-Aug;35(4):529-34. Epub 2014 Mar 26 doi: 10.1016/j.amjoto.2014.03.012. PMID: 24746632
Sarac O, Gulsuner S, Yildiz-Tasci Y, Ozcelik T, Kansu T
Ophthalmic Genet 2012 Dec;33(4):249-52. Epub 2012 Jun 11 doi: 10.3109/13816810.2012.689412. PMID: 22686558

Therapy

Zhang Y, Ni Y, Li L
Drug Alcohol Depend 2024 Jan 1;254:111037. Epub 2023 Nov 23 doi: 10.1016/j.drugalcdep.2023.111037. PMID: 38016197
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

Zhang Y, Ni Y, Li L
Drug Alcohol Depend 2024 Jan 1;254:111037. Epub 2023 Nov 23 doi: 10.1016/j.drugalcdep.2023.111037. PMID: 38016197
Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR
Dev Med Child Neurol 2005 Oct;47(10):691-5. doi: 10.1017/S0012162205001404. PMID: 16174313

Clinical prediction guides

Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R
Mov Disord 2024 Jun;39(6):983-995. Epub 2024 Apr 6 doi: 10.1002/mds.29754. PMID: 38581205
Zhang Y, Ni Y, Li L
Drug Alcohol Depend 2024 Jan 1;254:111037. Epub 2023 Nov 23 doi: 10.1016/j.drugalcdep.2023.111037. PMID: 38016197
Barona-Lleo L, Zulueta-Santos C, Murie-Fernandez M, Pérez-Fernández N
Am J Otolaryngol 2014 Jul-Aug;35(4):529-34. Epub 2014 Mar 26 doi: 10.1016/j.amjoto.2014.03.012. PMID: 24746632

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