Cavernous Malformation Research Paper

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

This disorder runs in families so it is likely if one parent has it then the

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

In the initial symptoms which are the most common are having difficulty in walking, numbness(pins and needles) and eyesight becoming worse. The less common syptoms consists of tremor, loss of coordination, speaking disorders, paralysis, not being able to think, reason or even remember. Finally all the others are rarely to happen(uncommon) and they are dizziness, difficulty while swallowing, constant headaches, problems hearing, itchiness, pain, seizures, sexuality problems.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

These mutations can be due to an error in DNA replication or due to environmental factors, such as cigarette smoke and

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Familial Dysautonmia is passed on through genetics. It is very rare because it is a recessive gene. Both parents will have to have a mutilation for a child to get Familial Dysautonmia. Some people may have the mutated gene, but not show symptoms of Familial Dysautonmia. It is from a mutation in the IKBKAP gene. Think of genes

hereditary disorder of Caucasians in the United States and is the most common cause of chronic

The condition occurs when the anus does not develop normally in the womb. However, no one knows just why this happens. Often, babies born with this condition have other birth defects.

The cause of this condition not known. In some cases it may be caused by genes passed down through families.

Megalencephaly-capillary malformation (M-CM) is a rare genetic syndrome characterized by megalencephaly and cutaneous capillary malformations in association with focal or generalized somatic overgrowth, neurocognitive delay and characteristic facies. M-CM is frequently associated with various structural brain abnormalities and must be differentiated from other known somatic overgrowth syndromes, for appropriate monitoring of known complications and genetic counseling. We report on a 3 years old boy with Megalencephaly-capillary malformation (M-CM) syndrome novel genetic mutation in ALK1 gene and describe his

The cause is most likely complex with the possibility of more than one factor being at the root of this disorder.