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Dysequilibrium syndrome(CAMRQ1)

MedGen UID:
98295
Concept ID:
C0394006
Disease or Syndrome
Synonyms: CAMRQ1; Cerebellar ataxia, mental retardation, and dysequilibrium
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Disequilibrium (230782004); Dysequilibrium (230782004); Dysequilibrium syndrome (230782004); DES - Dysequilibrium syndrome (230782004)
 
OMIM®: 192977; 224050; 610185
Orphanet: ORPHA1766

Definition

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.
[from GHR]

Clinical features

Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

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

Recent clinical studies

Etiology

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
Vestergaard AL, Coleman JA, Lemmin T, Mikkelsen SA, Molday LL, Vilsen B, Molday RS, Dal Peraro M, Andersen JP
Proc Natl Acad Sci U S A 2014 Apr 8;111(14):E1334-43. Epub 2014 Mar 24 doi: 10.1073/pnas.1321165111. PMID: 24706822Free PMC Article
Ağildere AM, Benli S, Erten Y, Coşkun M, Boyvat F, Ozdemir N
Neuroradiology 1998 Apr;40(4):228-32. PMID: 9592792
Rasmussen F, Gustavson KH, Sara VR, Floderus Y
Clin Genet 1985 Feb;27(2):191-5. PMID: 3978855
Hagberg B, Sanner G, Steen M
Acta Paediatr Scand Suppl 1972;226:1-63. PMID: 4115893

Diagnosis

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
Melberg A, Orlén H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N
Acta Neurol Scand 2011 Jan;123(1):28-33. doi: 10.1111/j.1600-0404.2010.01335.x. PMID: 20199520
Ağildere AM, Benli S, Erten Y, Coşkun M, Boyvat F, Ozdemir N
Neuroradiology 1998 Apr;40(4):228-32. PMID: 9592792
Gibson KM, Sweetman L, Nyhan WL, Bowen P
J Inherit Metab Dis 1985;8(2):58. PMID: 3939531
Johnson DL
Nephrol Nurse 1980 Jan-Feb;2(1):27-41. PMID: 6898845

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
Yoshida S, Tajika T, Yamasaki N, Tanikawa T, Kitamura K, Kubo K, Lyden PD
Neurosurgery 1987 May;20(5):716-21. PMID: 3110645
Johnson DL
Nephrol Nurse 1980 Jan-Feb;2(1):27-41. PMID: 6898845
Wakim KG, Johnson WJ, Klass DW
Trans Am Soc Artif Intern Organs 1968;14:394-401. PMID: 5701563

Prognosis

Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P
Am J Hum Genet 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. PMID: 25439728Free PMC Article
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
Bartos A, Pitha J
J Neurol 2003 Dec;250(12):1420-5. doi: 10.1007/s00415-003-0202-5. PMID: 14673573
Hagberg B, Sanner G, Steen M
Acta Paediatr Scand Suppl 1972;226:1-63. PMID: 4115893

Clinical prediction guides

Tanaka F, Doi H, Kunii M
Rinsho Shinkeigaku 2016 Jun 22;56(6):395-9. Epub 2016 May 14 doi: 10.5692/clinicalneurol.cn-000879. PMID: 27181749
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P
Am J Hum Genet 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. PMID: 25439728Free PMC Article
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
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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