It is currently estimated that one in every 25 children born will be affected by some kind of genetic disorder. If you are wondering about your own genetics, or the genetics of your current or future children, it’s worth finding out more about the most common genetic diseases.
Down’s syndrome is a chromosomal disorder caused by having an extra chromosome in each cell. Most babies with Down’s Syndrome are diagnosed quickly after birth (or even before birth) and may show symptoms such as a flat head, floppiness, below average height and weight, and a small mouth and tongue.
Fragile X syndrome is one of the more common inherited forms of intellectual disability. It is caused by a mutation in the FMRI gene, which can cause delayed development of speech and language, ADHD, and Autistic Spectrum Disorder. 15% of boys born with the disorder will experience seizures, while only 5% of girls will. There is a lot of misinformation surrounding this disorder, but this page - AAP Fragile X syndrome information with myths and facts explained – is a useful resource.
Cystic Fibrosis is one of the most well-known genetic disorders. It is an inherited condition that results in sticky mucus building up over time in the lungs and digestive system. It is caused by a faulty CFTR gene that means salt and water isn’t moved in and out of cells as it should be.
Huntington’s disease is a progressive degenerative brain disorder that usually only presents itself in a patient during his or her thirties or forties. It is caused by a mutation in the HTT gene, which is thought to play an important role in maintaining nerve cells within the brain. The most common symptoms are uncontrollable movements, emotional problems, and slowly losing the ability to think. A person with Huntington’s has a 50% chance of passing it down to their children, so if you have had Huntington’s in your family history, it’s best to get checked out.
Muscular dystrophy is actually a group of muscle diseases that causes a gradual weakening and eventual breakdown of skeletal muscles over time. Most patients who are diagnosed with muscular dystrophy will in time be unable to walk. It is caused by mutations in the genes that control the production of proteins, which protect muscle fibers from damage.
Sickle cell anemia is a serious type of inherited blood disorder that is caused by a defect in the gene that controls the production of haemoglobin in the blood, which causes the red blood cells to become ‘sickled’ in shape, meaning that they cannot function properly and tend to block other blood cells from travelling around the body. Symptoms include fatigue, pain, propensity to infection, blood pooling in the spleen, eye damage, and leg ulcers.
Celiac disease is a relatively newly discovered disease, but also pretty common. It is a digestive disorder whereby the intestine becomes inflamed as a result of eating gluten and is then unable to absorb nutrients. Although celiac disease is an inherited condition, we still aren’t sure what causes it, and sometimes it can develop spontaneously after a traumatic event in a person’s life.
Genetic screening can indicate whether a person is carrying a mutated gene, so speak to your physician for further advice if you are concerned.