Why is it called Timothy syndrome?

Why is it called Timothy syndrome?

However, it was linked with calcium channel abnormalities in 2004, and the disorder was thence named “Timothy syndrome” in honor of Katherine W. Timothy, who was among the first to identify a case and performed much of the phenotypic analysis that revealed other abnormalities.

How does Timothy syndrome affect the nervous system?

People with Timothy syndrome often have features of autism. When healthy neurons are stimulated, dendrites tend to grow longer and form branches — though dendrites are constantly growing and then retracting, the dominant force is toward greater length.

What is Batten’s Disease?

Batten disease is a group of fatal genetic disorders. There are 13 types. The disorder affects the body’s ability to get rid of cellular waste (lipids and proteins), so they build up in cells all over the body. The buildup causes seizures, vision loss, problems with thinking and movement, and eventually, death.

How does Timothy syndrome disrupt cell communication?

In this study, the scientists suggest that the autism in Timothy syndrome patients is caused by a gene mutation that makes calcium channels in neuron membranes defective, interfering with how those neurons communicate and develop.

What is Timothy syndrome and what causes it?

What Is Timothy Syndrome? Timothy syndrome (TS) is a rare genetic disorder that causes severe heart rhythm dysfunction, intellectual disability, and seizures. Many children born with the disorder have distinctive facial features, webbing of toes and fingers, and characteristics of autism.

What is Timothy syndrome mutation G406R?

The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation Timothy syndrome (TS) is a multiorgan dysfunction caused by a Gly to Arg substitution at position 406 (G406R) of the human CaV1.2 (L-type) channel.

What is timtimothy syndrome (LQT8)?

Timothy syndrome (LQT8) is a rare multisystem disorder caused by mutations of the CACNA1C gene, which encodes the L-type Ca 2+ channel, Ca V 1.2, and is characterized by syndactyly, QT prolongation, congenital heart disease, cognitive and behavioral problems, musculoskeletal diseases, immune dysfunction, and more sporadically autism.

Can an echocardiogram detect Timothy syndrome?

An echocardiogram (ultrasound of the heart) will detect any heart defects. Autism is a complex disorder and may be difficult to detect. The combination of webbed fingers and toes and abnormal heart rhythm will suggest a diagnosis of Timothy syndrome.