Timothy

Timothy (Medicine)

Timothy (pronounced /ˈtɪməθi/) is a term used in the medical field, specifically in the context of genetics and molecular biology. It refers to the Timothy Syndrome, a rare genetic disorder.

Etymology

The term Timothy is of Greek origin, derived from the name Timotheos, meaning "honoring God". The syndrome was named after the first patient diagnosed with the condition.

Definition

Timothy Syndrome is a rare congenital disorder characterized by a myriad of systemic abnormalities. It is caused by a mutation in the CACNA1C gene, which is responsible for the production of a protein that forms channels in the cell membrane, allowing calcium ions to enter cells.

Symptoms

The symptoms of Timothy Syndrome include cardiac arrhythmia, webbed fingers and toes (syndactyly), immune deficiency, and developmental delay. Other symptoms may include autism spectrum disorder and facial dysmorphism.

Diagnosis

Diagnosis of Timothy Syndrome is based on clinical features and confirmed by genetic testing that identifies the mutation in the CACNA1C gene.

Treatment

Treatment for Timothy Syndrome is symptomatic and supportive. It may include medication for cardiac arrhythmia, physical therapy for developmental delays, and surgery for syndactyly.

Related Terms

• Genetic disorder
• Congenital disorder
• Cardiac arrhythmia
• Syndactyly
• Immune deficiency
• Autism spectrum disorder
• Facial dysmorphism
• Genetic testing
• CACNA1C gene

External links

• Medical encyclopedia article on Timothy
• Wikipedia's article - Timothy

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