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Dysequilibrium syndrome

MedGen UID:
98295
Concept ID:
C0394006
Disease or Syndrome
Synonyms: Cerebellar ataxia, intellectual disability, and dysequilibrium; Cerebellar ataxia, mental retardation, and dysequilibrium
SNOMED CT: Disequilibrium (230782004); Dysequilibrium (230782004); Dysequilibrium syndrome (230782004); DES - Dysequilibrium syndrome (230782004)
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).
 
Monarch Initiative: MONDO:0009133
OMIM® Phenotypic series: PS224050
Orphanet: ORPHA1766

Definition

CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and impaired intellectual development, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). Genetic Heterogeneity of CAMRQ CAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (610185), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (613227), caused by mutation in the CA8 gene (114815) on chromosome 8q11; and CAMRQ4 (615268), caused by mutation in the ATP8A2 gene (605870) on chromosome 13q12. [from OMIM]

Additional description

From MedlinePlus Genetics
VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion).

Additional features of VLDLR-associated cerebellar hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the same direction (strabismus). Some affected individuals have also had flat feet (pes planus), seizures, and short stature. Studies suggest that VLDLR-associated cerebellar hypoplasia does not significantly affect a person's life expectancy.  https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysequilibrium syndrome
Follow this link to review classifications for Dysequilibrium syndrome in Orphanet.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Kulkarni M, Prabhu AR, Rao IR, Nagaraju SP
Cochrane Database Syst Rev 2024 May 22;5(5):CD015526. doi: 10.1002/14651858.CD015526.pub2. PMID: 38775299Free PMC Article
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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
Barona-Lleo L, Zulueta-Santos C, Murie-Fernandez M, Pérez-Fernández N
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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
Dilena R, Paglialonga F, Barbieri S, Edefonti A
Hemodial Int 2011 Oct;15 Suppl 1:S64-7. doi: 10.1111/j.1542-4758.2011.00604.x. PMID: 22093604
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Prognosis

Jacobs KW, Klapak B, Morford ZH, Snyder R
Behav Processes 2024 Feb;215:104995. Epub 2024 Jan 24 doi: 10.1016/j.beproc.2024.104995. PMID: 38272282
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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
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Clinical prediction guides

Jacobs KW, Klapak B, Morford ZH, Snyder R
Behav Processes 2024 Feb;215:104995. Epub 2024 Jan 24 doi: 10.1016/j.beproc.2024.104995. PMID: 38272282
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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Recent systematic reviews

Kulkarni M, Prabhu AR, Rao IR, Nagaraju SP
Cochrane Database Syst Rev 2024 May 22;5(5):CD015526. doi: 10.1002/14651858.CD015526.pub2. PMID: 38775299Free PMC Article

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