Doctor in SDG's Genetic Centre
Treatment of Growth Hormone Deficiency
Treatment of Birth Defects
Preimplantation Genetic Diagnosis (Pgd)
Treatment of Down's Syndrome
Treatment of Genetic Disorders During Pregnancy
Treatment of Recurrent Pregnancy Loss
Prenatal And Birth Care
Chromosomal Abnormality Screening
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Is prescription required for karyotyping test? Is this test enough to diagnose klinefelter syndrome.
Do you know that Huntington’s disease is an inherited disease? This condition leads to the progressive degeneration of the nerve cells present in your brain. Huntington's disease has severe impact on several functional abilities of an affected person and results in psychiatric, thinking and movement disorders.
Huntington’s disease occurs from an inherited defect present in a single gene. It is a form of autosomal dominant disorder, which indicates that a person requires just one copy of the defective gene for developing the disorder. Except the genes on the chromosomes, two copies of every gene are inherited by a person. The affected parent may pass along the defective gene copy or the healthy copy.
Commonly, the symptoms of Huntington’s disease start appearing during midlife. It may also affect a person during childhood. The symptoms of this disease vary from person to person. Abnormal movement and weight loss are common symptoms, which occur in all stages.
The usual early stage symptoms include the following:
Slight coordination changes, which affect balance and make you clumsy
Uncontrollable fidgety movement
Stiffness and slowing
Problems with thinking in difficult situations
With passing time, the symptoms start interfering more with the patient’s daily life and activities. You may start dropping things, face trouble with swallowing, and talking. Staying organized may get tough. Certain emotional changes are indicated.
In the later stage of Huntington’s disease, a patient becomes dependent on others for taking care of them. A patient cannot walk or speak, and fidgety movements are likely to become more severe or may subside.
Huntington’s disease has no fixed cure. Several measures are followed for managing the symptoms. They are as follows:
Medications are used to manage fidgety movements. Other medicines are also used for controlling any other side effect experienced.
Speech or language therapy may be beneficial in case of speech and swallowing problems.
Physical therapy may help you in improving your control movements. Assistive devices like handrails can be used for managing your changing physical abilities.
Nutritional support is used in which special utensils are used to focus on a nutrient-rich diet.
Exercise is also important for patients with Huntington’s disease as it enables them to stay active and fit.
In case you experience any symptom of Huntington’s disease, it is important for you to consult a doctor immediately. This is a severe disease and early diagnosis and treatment will prevent the condition from worsening.
If your kid is affected by Duchenne Muscular Dystrophy (DMD), it is important for you to know about the best ways of dealing with the condition. Muscular dystrophy consists of group of diseases, which result in the weakening of muscles along with reduced flexibility. DMD accounts for being the most common type of muscular dystrophy. It occurs because of flaws in the gene, which controls how your body keeps the muscles healthy. This disease affects boys and the symptoms start appearing from early childhood.
There is no specific treatment for DMD. However, there are several ways, including medicines and therapy, to deal with the symptoms and to protect the muscles.
- Several steroids such as prednisone help in slowing down muscle damage. Children taking this medicine are able to walk for two to five years longer than they would usually do. Lung and heart functions are also improved.
- DMD leads to heart problems and hence, you should take your child to a heart doctor for regular checkups until the age of 10.
- In some cases, a surgery may be required to fix their shortened muscles, for straightening the spine, or for treating a heart or lung problem.
Taking care of your child
If your child has DMD, it does not mean that he will have to refrain from activities such as school, sports and spending time with friends. By sticking to the right treatment plan, you will be able to make your child active.
- Stand and walk: Being in an upright position will keep your child’s bones strong and the spine straight. You can get your child braces or standing walkers, which will help him in terms of balance and mobility.
- Eat right: Although there is no special diet for DMD, several food items should be taken for preventing problems related to weight. Your child should eat the proper amount of food with a proper balance of nutrients and calories regularly.
- Stay active: You should ensure that your child exercises regularly. Regular stretching exercises help in keeping the muscles and joints limber, which makes him feel better. You can avail the help of a physical therapist for an exercise schedule.
You can look for and join local support groups associated with DMD, as other families living with DMD can be a source of good advice and understanding about life with DMD.
Have you heard of a health condition in which there are insufficient red blood cells in your body for carrying sufficient oxygen to all parts of the body? This condition is called sickle cell anemia and it is an inherited form of anemia. Usually, the red blood cells in your body are round and flexible and move through the blood vessels easily. In case of sickle cell anemia, the red blood cells become sticky and rigid. They are shaped like crescent moon or sickle. Because of the irregular shape, these can get stuck in the blood vessels, which slows down the blood flow.
The only potential cure of sickle cell anemia is a bone marrow transplant. Other treatment measures focus on easing the symptoms and preventing further complications. The various treatment modes are as follows:
- Antibiotics: Children with sickle cell anemia can start taking antibiotic penicillin by the age of two months. This prevents infections like pneumonia. Even in the case of adults with sickle cell anemia, antibiotics help in fighting certain infections.
- Pain-relieving medications: Several over-the-counter pain relief medications may be prescribed by a doctor for reducing pain during a sickle cell crisis. Hydroxyurea is another type of medicine, which helps in reducing the frequency of pain.
- Vaccinations: Childhood vaccinations should be given for preventing the disease in children. These vaccinations are more important for children already affected with sickle cell anemia as they are more prone to infections. Vaccines such as the annual flu shot and the pneumococcal vaccine are important for adults suffering from sickle cell anemia.
- Blood transfusions: In case of a red blood transfusion, red blood cells are removed from a supply of blood that is donated. The donated cells are intravenously given to a sickle cell anemia patient. Blood transfusion increases the number of normal red blood cell count in circulation, giving relief to anemia. Regular blood transfusions are important for children with sickle cell anemia, who are highly prone to stroke.
- Stem cell transplant: A stem cell transplant or a bone marrow transplant involves the replacement of the bone marrow affected by sickle cell anemia with a healthy bone marrow given by a donor. This is a risky procedure and is only recommended for patients with sickle cell anemia at a chronic stage.
It is recommended for you to consult a doctor on experiencing any symptom of sickle cell anemia. This is a dangerous health condition and requires proper diagnosis and treatment before it gets out of your hands.
Does your baby’s skin taste too salty when you kiss him or her? Did he or she not poop after being born? These symptoms indicate cystic fibrosis in your baby, which is a condition that changes the way your body makes sweat and mucus. It also affects the functioning of the lungs and digestive system. The condition occurs from a flawed gene. If you have cystic fibroids, your mucus may be too thick or your sweat can be too salty. Heavy mucus clogging in your lungs may affect your ease of breathing. This is a serious and life-threatening disease, but it affects different people in different ways.
The gene known as CFTR is present in everybody. It makes a protein which controls the amount of salt and water that are moved in and out of the cells of the body. In case of cystic fibroids, the CTFR gene is broken, which occurs if you inherit two bad copies of the gene. A bad CFTR gene may lead your cells to make the wrong amount of water or salt. This makes the body incapable of getting sufficient oxygen and nutrients, as the body loses them via sweating.
Apart from the primary symptoms, several other symptoms are also likely due to cystic fibroids. The common symptoms which your child may experience are as follows:
- Coughing up thick mucus, wheezing and shortness of breath
- Sinus infections, pneumonia, or very frequent bronchitis
- Development of polyps in the nose
- Bulky, oily and foul-smelling stool
- Low bone density, widening and rounding of the fingertips and weight loss
- In later life, cystic fibroids may cause liver disease, gallstones or pancreatitis.
There is no specific treatment for cystic fibroids. Several treatments are followed for relieving the symptoms and help patients feel better, breathe easier and have lesser infections or stomach problems.
- Airway clearance technique can help you with breathing as the mucus from the lungs is cleared in the process. There are several ways to undertake airway clearance and special devices can be used for assistance.
- Several inhaled drugs such as salt solutions, steroids and antibiotics are used in thinning the mucus, clearing the lungs and fighting infections.
- Several medicines are used for fighting the inflammation and reducing swelling in the lungs.
- In case your pancreas are not working properly, you can take enzyme pills for digesting proteins and fats for absorbing more nutrients from the food you take.
- Vitamin A, E and D supplements provide the nutrients, which your intestine cannot absorb.
In case you experience the symptoms of cystic fibroids, you should consult a doctor immediately. This will allow you to go for an early diagnosis and effective treatment.