If I have an arnold chiari malformation, should I get genetic testing to check for other things?

Perhaps. If you have other birth defects (chiari can be secondary to spina bifida or be a part of syndromes), then chromosome testing may be indicated. Many chiari malformations occur alone, in which case genetic testing is not necessary. As genome sequencing becomes more rapid and available, genes conferring susceptibility to chiari and other isolated birth defects may become available for testing.
Probably not. The arnold chiari malformation is associated with spina bifida and brain malformations. These are either obvious on exam or not present. Genetic testing does not help. Bowel and bladder dysfunction is common as is scoliosis and hip problems. These should be part of usual and appropriate evaluation. Complications with hydrocephalus and risk for seizures should also be checked out.

Related Questions

Is there a genetic test to catch an arnold chiari malformation early?

Not yet. Arnold chiari malformation can occur by itself or in association with other congenital abnormalities. There is no specific genetic test for arnold chiari yet. Read more...
AFP? The arnold chiari malformation is associated with spina bifida. In some pregnant women there can be elevation of the AFP that suggests such a risk. A high resolution ultrasound of the fetus can look for a spinal closure defect. Amniocentesis is more accurate but much more risky. Certain medications raise the risk of spina bifida - especially depakote. Use folate (folic acid) and get quality ultrasounds. Read more...

What is an arnold chiari malformation?

Result of ONTD. Chiari ii malformation (cm-ii), also known as arnold-chiari malformation, is a fetal condition characterized by downward displacement of the cerebellar vermis and tonsils, a brainstem malformation with beaked midbrain on neuroimaging, and a spinal myelomeningocele (open spina bifida). The spinal defect is the etiology of the chiari ii malformation of the cerebellum and brainstem. Read more...

What sort of problem is an arnold-chiari malformation?

Brain malformation. Briana, a chiari malformation is a downward congenital (from birth) displacement of the lowermost part of the a part of the brain (the cerebellum) through the opening in the base of the skull. Several types with no symptoms to multiple symptoms such as neck pain, headaches, dizziness, loss of balance, numbness of limbs. May be associated with other structural changes in the spinal cord or brain. Read more...
Aquired also. Not all chiari type 1 is present at birth. This can be an aquired condition with some association with repeated lumbar puncture or spinal tap as well as lumbar peritoneal shunts. Generally the cerebellar tonsils rise above the foramen magnum over time as we age. Some skull bony abnormalities may make the compartment where the cerebellum sits smaller than normal and these can be present from birth. Read more...

What are the symptoms of an arnold chiari malformation?

Chiary II. Chiari ii malformation (cm-ii), also known as arnold-chiari malformation, is a fetal condition characterized by downward displacement of the cerebellar vermis and tonsils, a brainstem malformation with beaked midbrain, and a spinal myelomeningocele (open spina bifida). Symptoms: lower extremity paresis, hydrocephalus, bowel/bladder control impairement, inability to indipendently ambulate. Read more...

How dangerous is surgery for the arnold chiari malformation in a 18-month old?

It is. Chiari described different types of developmental defects of the cerebellum. Type 2 is associated with spina bifida, type 3 and type 4 are severe defects. You are probably talking about type 2 associated with spina bifida. It can cause breathing and swallowing problems. Treatment with surgery is controversial. Read more...

Do you think that berret's esophagus can be caused by arnold chiari malformation?

No they are not . Related to each other at all. However, if experiencing severe secondary symptoms to the arnold-chiari malformation in terms of GI like nausea and vomiting over an extended period of time it may or with chronic use of Aspirin or other non steroidal anti inflammatory medications to control symptoms like a headache then it is a possibility secondary to their use as well. Read more...