Genetician consultation to diagnose EDS type III?
Jun 02, 2008 09:33AM in the Genetics Expert Forum
Given the concerns that you have raised about your features, you may benefit from seeing a geneticist regarding EDS. A geneticist can do a thorough exam, and review family history information in order to make a diagnosis of EDS. You are correct that there is not a genetic test clinically available to make this diagnosis. As you know, Ehler-Danlos syn...
FALS PROGRESSION
May 23, 2008 10:11AM in the Genetics Expert Forum
As you may know, approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS). As you know, ALS is a neurodegenerative disorder in which motor neurons (nerve cells that communicate to muscle cells) in the brain, brainstem, and spinal cord die. This causes paralysis and death. ALS usually begins in middle adult life, and the lifetime r...
Neurofibromatosis
May 22, 2008 10:06PM in the Genetics Expert Forum
As you have learned, Neurofibromatosis type 1 (NF1), is a genetic condition that is characterized by very specific findings. People with NF1 have several café au lait spots (brown spots on the skin with regular boarders), freckles under the arms or in the inguinal area, multiple neurofibromas, and lisch nodules of the iris (which you refer to as “eye frec...
marfan syndrome
May 22, 2008 09:52PM in the Genetics Expert Forum
In contrast, sometimes someone is the first person in the family to be diagnosed with Marfan syndrome. In this scenario, the person has Marfan syndrome as a result of a “new mutation” in the FBN1 gene. There is evidence that older fathers have an increased risk to have children with specific conditions including Marfan syndrome. This risk has to do wit...
Carnitine Palmitoyl Transferase Deficiency Type II
May 22, 2008 09:29PM in the Genetics Expert Forum
Thank you for your question. I hope that the following information about Carnitine palmitoyltransferase II (CPT II) deficiency is helpful to you. CPT II is a metabolic condition that can run in the family. The diagnosis is often made in young adults, and the symptoms include recurrent episodes of rhabdomyolysis (breakdown of muscle fibers). This muscle...
Marfans
May 07, 2008 08:19PM in the Genetics Expert Forum
It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition. A medical geneticist would be the appropriate type of physician to perform a complete exam, so it is good to hear that you will be seeing a geneticist. As you know, Marfan syndrome is a connective tissue disorder that affects many pa...