Dysequilibrium syndrome
Dysequilibrium Syndrome (pronounced: dis-ee-kwuh-lib-ree-uhm sin-drohm) is a rare, genetically inherited condition that primarily affects the nervous system.
Etymology
The term "Dysequilibrium Syndrome" is derived from the Greek words "dys" meaning bad or difficult, "equilibrium" referring to balance, and "syndrome" indicating a group of symptoms that consistently occur together.
Definition
Dysequilibrium Syndrome, also known as Desanto-Shinawi syndrome, is characterized by a wide range of symptoms including lack of muscle coordination (ataxia), delayed motor skills development, difficulty speaking (dysarthria), and mild to moderate intellectual disability.
Symptoms
The most common symptoms of Dysequilibrium Syndrome include:
- Ataxia: Lack of muscle coordination which may affect a person's ability to walk, talk, eat, and perform other self-care tasks.
- Dysarthria: A condition in which the muscles that produce speech are weak or you have difficulty controlling them.
- Nystagmus: A condition that causes involuntary, rapid movement of one or both eyes.
- Intellectual disability: A term used when there are limits to a person’s ability to learn at an expected level and function in daily life.
Causes
Dysequilibrium Syndrome is caused by mutations in the VLDLR gene. This gene provides instructions for making a protein that is important for the migration of neurons in the brain during early development.
Diagnosis
Diagnosis of Dysequilibrium Syndrome is based on clinical examination, genetic testing, and imaging studies such as MRI of the brain.
Treatment
There is currently no cure for Dysequilibrium Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support.
See Also
External links
- Medical encyclopedia article on Dysequilibrium syndrome
- Wikipedia's article - Dysequilibrium syndrome
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