U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1(CAMRQ1)

MedGen UID:
1639436
Concept ID:
C4551552
Disease or Syndrome
Synonyms: CAMRQ1; CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE; CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; Cerebellar disorder, nonprogressive, with mental retardation; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; Cerebellar hypoplasia, VLDLR associated
 
Gene (location): VLDLR (9p24.2)
 
Monarch Initiative: MONDO:0024542
OMIM®: 224050

Disease characteristics

Excerpted from the GeneReview: VLDLR Cerebellar Hypoplasia
VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures. Children either learn to walk very late (often after age 6 years) or never achieve independent ambulation. Brain MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified gyration of the cerebral hemispheres, and small brain stem – particularly the pons. [from GeneReviews]
Authors:
Kym M Boycott  |  Stella K MacDonald  |  Jillian S Parboosingh   view full author information

Clinical features

From HPO
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
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
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.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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.
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.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Inferior cerebellar vermis hypoplasia
MedGen UID:
343328
Concept ID:
C1855350
Congenital Abnormality
Underdevelopment of the inferior portion of the vermis of cerebellum.
Simplified gyral pattern
MedGen UID:
413664
Concept ID:
C2749675
Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
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).
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).
Pachygyria
MedGen UID:
504794
Concept ID:
CN001193
Finding
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

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

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
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M
Brain 2014 Feb;137(Pt 2):411-9. Epub 2013 Dec 24 doi: 10.1093/brain/awt338. PMID: 24369382Free PMC Article
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

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
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
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
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

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
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
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
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M
Brain 2014 Feb;137(Pt 2):411-9. Epub 2013 Dec 24 doi: 10.1093/brain/awt338. PMID: 24369382Free 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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...