Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Overview

What is Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1?

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) is a recessive condition caused by changes to a gene called VLDLR. All individuals with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) have ataxia, which is a loss of control of body movement. Children usually do not walk until the age of 6; some never walk on their own. Some persons, particularly those affected from Turkey, will use quadrupedal locomotion (walking on all fours). They walk with their hands and feet on the ground and their elbows and knees are straight; this is thought to be due to the instability caused by CAMRQ1 and possibly promoted by environmental conditions. All people with CAMRQ1 have some level of intellectual disability but there is a range; some are affected more than others. Most people can follow simple commands. Some people can speak a few sentences, but those who can talk have trouble speaking. Adults cannot live on their own.

Most people with CAMRQ1 have abnormal alignment of the eyes (strabismus) and most people have flat feet (pes planus). Some people have seizures. Seizures are more common in people of the Hutterite population that are affected. Persons with CAMRQ1 may have short stature (height). A small head (microcephaly) has been found in a few affected people. Average lifespan of a person with CAMRQ1 is not well known, but experience with the Hutterite population indicates it is probably not much shorter than the average lifespan.

Every person has two versions of each gene in the body, one version inherited from mother and one version inherited from father. CAMRQ1 comes from having changes (mutations) to both versions of the VLDLR gene. A person cannot control if a mutation occurs in a gene or if they inherit a gene with a mutation. They also cannot control whether or not they pass on a mutation in a gene to a child. The diagnosis of Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 is made by clinical examination for suggestive features, brain MRI, and genetic testing.

There is no cure for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1. Therapy involves management of different symptoms. Physical therapy can help people with walking. Occupational therapy can help with smaller movements. Because of the intellectual disability, people also need the proper educational support.

A genetics professional, such as a medical geneticist, can evaluate individuals suspected of having a genetic disorder and determine an appropriate diagnosis. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/cerebellar-ataxia-mental-retardation-and-dysequilibrium-syndrome1/overview/10015 • DATE UPDATED: 2019-07-17

References

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