Gillespie syndrome

Gillespie syndrome (pronounced: jil-ES-pee sin-drome) is a rare genetic disorder characterized by aniridia, intellectual disability, and ataxia. The syndrome is named after the Scottish physician, Dr. Frederick Gillespie, who first described the condition in 1965.

Etymology

The term "Gillespie syndrome" is derived from the name of the physician who first described the condition, Dr. Frederick Gillespie. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".

Symptoms

The primary symptoms of Gillespie syndrome include:

Aniridia: This is a condition characterized by a partial or complete absence of the iris in the eye, which can lead to various vision problems including nystagmus, amblyopia, and glaucoma.

Intellectual disability: Individuals with Gillespie syndrome often have mild to moderate intellectual disability, which can affect their ability to learn and function in daily life.

Ataxia: This is a condition that affects coordination and balance. Individuals with Gillespie syndrome may have difficulty with tasks that require fine motor skills, such as writing or buttoning a shirt.

Causes

Gillespie syndrome is caused by mutations in the ITPR1 gene. This gene provides instructions for making a protein that plays a crucial role in the release of calcium ions within cells. Mutations in the ITPR1 gene disrupt the normal function of this protein, leading to the symptoms of Gillespie syndrome.

Diagnosis

Diagnosis of Gillespie syndrome is based on the presence of the characteristic symptoms of aniridia, intellectual disability, and ataxia. Genetic testing can confirm the diagnosis by identifying a mutation in the ITPR1 gene.

Treatment

There is currently no cure for Gillespie syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the condition. This may include physical therapy for ataxia, special education services for intellectual disability, and various treatments for aniridia and associated vision problems.

External links

Medical encyclopedia article on Gillespie syndrome
Wikipedia's article - Gillespie syndrome

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Gillespie syndrome