Costeff syndrome

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Costeff Syndrome

Costeff Syndrome (pronounced: koh-stef sin-drohm), also known as Optic Atrophy Plus Syndrome or 3-Methylglutaconic Aciduria Type III, is a rare genetic disorder characterized by early-onset optic atrophy, movement disorders, and mild cognitive impairment. The syndrome is named after the Israeli pediatrician, Dr. Hillel Costeff, who first described the condition in 1989.

Etymology

The term "Costeff Syndrome" is derived from the name of Dr. Hillel Costeff, who first identified and described the syndrome. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Symptoms

The primary symptoms of Costeff Syndrome include optic atrophy, spastic paraplegia, extrapyramidal symptoms, and mild cognitive impairment. Patients may also exhibit ataxia, dysarthria, and dystonia.

Causes

Costeff Syndrome is caused by mutations in the OGA1 gene, which is located on the long (q) arm of chromosome 19 at position 13.2. This gene provides instructions for making an enzyme that is involved in the breakdown of certain proteins.

Diagnosis

Diagnosis of Costeff Syndrome is based on clinical examination, genetic testing, and the presence of increased levels of a substance called 3-methylglutaconic acid in the urine.

Treatment

There is currently no cure for Costeff Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy.

Prognosis

The prognosis for individuals with Costeff Syndrome varies. Some individuals may have a normal lifespan with mild symptoms, while others may experience severe symptoms and a shortened lifespan.

See Also

External links

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