I have always been in pretty good health, so I was surprised one day when my doctor told me my blood pressure was a bit high. She told me to begin watching my salt intake, start exercising, and to try to relax. Well, I intended to follow her advice when I left her office, but the next day I was back to my same habits. I kept using the salt shaker and didn't begin an exercise routine like I had planned. When I went for my next check-up, she told me that my blood pressure was even higher and approaching a dangerous level. I had to begin a blood pressure medication to manage it. I wanted to create a blog to share my story and remind people to listen to their doctors' advice. If a few lifestyle changes can improve your health, then you should make them.
Children with hereditary movement disorders have trouble coordinating their movements, resulting in difficulty walking, speech impairments, and physical disabilities. Many movement disorders result from one mutation on a single gene, while others are the result of multiple mutations. If you have a family history of movement disorders, talk to your doctor about genetic testing. Then review this information to educate yourself about the genetic mutations responsible for hereditary ataxia, juvenile Huntington's disease, dystonia, Wilson disease, and Niemann Pick disease.
Hereditary Ataxia
Ataxia is a group of neurological disorders that affect muscle movement in children. Friedreich ataxia develops due to degeneration of the spine, while ataxia-telangiectasia results from degeneration of the part of the brain responsible for motor control. This part of the brain is called the cerebellum. Several types of ataxia involve both the cerebellum and the spine.
There are several genetic mutations responsible for the presence of ataxia in children. Friedreich ataxia occurs in children who have mutations in FXN, the gene responsible for producing a protein called frataxin. Ataxia-telangiectasia develops due to a mutation in the ATM gene, which is responsible for producing a protein that controls the rate of cell division.
Juvenile Huntington's Disease
Juvenile Huntington's disease develops in people under the age of 20 due to a mutation in the HTT gene. This gene produces the huntingtin protein, which appears to affect the nerve cells in the brain. The HTT mutation responsible for juvenile HD causes a certain genetic sequence to repeat itself over and over again. As a result, the huntingtin protein breaks into small fragments that disrupt the function of nerve cells.
Dystonia
Dystonia refers to a group of disorders that cause poor muscle tone, resulting in abnormal posture and frequent muscle spasms. Early-onset dystonia, a type of dystonia that causes twisting of the limbs, occurs in children. This disorder is the result of a mutation in the DYT1 gene, which affects people of Jewish descent more often than it affects others.
If one parent has the DYT1 gene mutation and the other parent does not, their child has a 50 percent chance of inheriting the mutation. Approximately 30 percent of the people with a DYT1 gene mutation go on to develop dystonia. Genetic testing companies and medical laboratories offer testing to detect mutations in the DYT1 gene.
Wilson Disease
Wilson disease causes copper to build up in the liver, eyes, brain, and other parts of the body. This buildup of excess copper causes neurological problems, liver disease, and mental-health disorders. Wilson disease is caused by a mutation in the ATP7B gene, which is supposed to produce copper-transporting ATPase 2, a molecule that carries copper from the liver to other parts of the body. When there is a mutation in ATP7B, copper is not eliminated from the body properly.
Niemann Pick Disease
There are four different types of Niemann Pick disease: A, B, C1, and C2. Types A and B are caused by mutation of the SMPD1 gene, which is responsible for the production of acid sphingomyelinase, an enzyme. This enzyme is supposed to convert sphingomyelin, a type of fat, into ceramide. SMPD1 mutation results in a shortage of acid sphingomyelinase, causing sphingomyelin to accumulate in the cells.
Types C1 and C2 are caused by mutation of the NPC1 or NPC2 genes. A mutation in either one of these genes causes cholesterol and lipids to build up in the cells. Because cholesterol and lipids are not where they are supposed to be, some cells do not function normally. Premature cell death occurs as a result of these problems. This results in dysfunction of the brain, liver, lungs, and other organs.
The presence of a gene mutation does not mean a child will automatically develop a hereditary movement disorder, but it does increase the risk. If you are concerned about the health of your baby, talk to your doctor about the need for genetic testing. The right test at a place like Courtagen Life Sciences can help you find out important genetic information about your child, preparing you to handle any health challenges that might come your way.
Share13 March 2015
