How is Urbach-Wiethe disease contracted?
How is Urbach-Wiethe disease contracted?
Urbach-Wiethe disease is an autosomal recessive disorder caused by mutations in the ECM1 gene on chromosome 1, which encodes extracellular matrix protein 1 (ECM1) 1-3. ECM1 is a key structural component of basement membranes and the extracellular matrix, providing strength to tissues 4.
What part of the brain does Urbach-Wiethe disease affect?
(1994, 1995) investigated a patient suffering from Urbach–Wiethe (UW) syndrome, a very rare autosomal recessive disease, which produces bilateral calcifications in the anterior medial temporal lobes, especially of the amygdalae, in 50–75% of cases (Newton et al., 1971; Staut and Naidich, 1998).
What does Urbach-wiethe damage?
SM has an unusual genetic disorder called Urbach-Wiethe disease. In late childhood, this disease destroyed both sides of her amygdala, which is composed of two structures the shape and size of almonds, one on each side of the brain. Because of this brain damage, the woman knows no fear, the researchers found.
What is the most obvious symptom in patients with Urbach-Wiethe disease?
The first symptom is often a weak cry or a hoarse voice due to a thickening of the vocal cords. The hoarse voice can be one of the most striking clinical manifestations of the disease. Lesions and scars also appear on the skin, usually the face and the distal parts of the limbs.
Who has Urbach-Wiethe disease?
Ralph Adolphs, Antonio Damasio and Daniel Tranel at the University of Iowa have been working with SM for over a decade. She is a 44-year old mother-of-three, who suffers from a rare genetic condition called Urbach-Wiethe disease, which has caused parts of her brain to harden and waste away.
Is there a cure for Urbach-Wiethe disease?
Currently, there is no cure for Urbach–Wiethe disease although there are some ways to individually treat many of its symptoms. There has been some success with oral dimethyl sulfoxide (DMSO) and intralesional heparin, but this is not true in all cases.
What happens if you’re born without an amygdala?
Now, scientists have confirmed that a missing amygdala results in similar behavior in humans, according to a study in the journal Current Biology. “There’s not very many humans with this sort of brain damage,” said Justin Feinstein, the study’s lead author and a clinical neuropsychologist at the University of Iowa.
What is the most obvious symptom in patients with Urbach wiethe disease?
What is having no fear called?
unafraid Add to list Share. When you’re unafraid, you’re not the least bit frightened. If you’re an outspoken person, you are unafraid of saying exactly what you think. You can use the adjective unafraid for anyone who acts in a fearless or brave way, or who feels no anxiety.
What is Thanatophobia?
Thanatophobia is an intense fear of death or the dying process. Another name for this condition is “death anxiety.” You might be anxious about your own death or the death of someone you care about.
What is Monophobic?
Autophobia, or monophobia, makes you feel extremely anxious when you’re alone. This fear of being alone can affect your relationships, social life and career. You may also have a fear of abandonment that stems from a traumatic childhood experience.