National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dysequilibrium syndrome



Other Names:
DES; Cerebellar hypoplasia, VLDLR associated; VLDLRCH; DES; Cerebellar hypoplasia, VLDLR associated; VLDLRCH; Cerebellar disorder, nonprogressive, with mental retardation See More
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1766

Definition
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Epidemiology
To date, more than 50 individuals have been reported in the world literature.

Clinical description
DES is a congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature and pes planus.

Etiology
Etiological subtypes of DES have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. VLDLR encodes the very low density lipoprotein receptor (VLDLR) which is involved in neuronal migration in the cerebral cortex and cerebellum. CA8 encodes a carbonic-anhydrase related protein, whose biological function is not yet fully understood. The function of WDR81 is still unknown. ATP8A2 encodes an ATPase which is mainly expressed in brain tissue, with the highest levels found in the cerebellum, and that may be critical for the developmental processes of the central nervous system.

Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ataxia 0001251
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Hyperreflexia
Increased reflexes
0001347
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Muscular hypotonia
Low or weak muscle tone
0001252
30%-79% of people have these symptoms
Cerebral palsy 0100021
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ]
0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
5%-29% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue
[ more ]
0000504
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Autosomal recessive inheritance 0000007
Broad-based gait
Wide based walk
0002136
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ]
0001321
Congenital onset
Symptoms present at birth
0003577
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
0000750
Dysarthria
Difficulty articulating speech
0001260
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Dysmetria
Lack of coordination of movement
0001310
Gait ataxia
Inability to coordinate movements when walking
0002066
Gaze-evoked nystagmus 0000640
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ]
0002365
Intention tremor 0002080
Nonprogressive 0003680
Pachygyria
Fewer and broader ridges in brain
0001302
Pes planus
Flat feet
Flat foot
[ more ]
0001763
Poor speech 0002465
Psychomotor retardation 0025356
Simplified gyral pattern 0009879
Truncal ataxia
Instability or lack of coordination of central trunk muscles
0002078
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dysequilibrium syndrome. Click on the link to view a sample search on this topic.

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