overview
Prader-Willi Syndrome (PRAH-major VIL-e) is a rare genetic disorder that causes a variety of physical, mental, and behavioral problems. A key feature of Prader-Willi syndrome is a constant feeling of hunger, which usually begins around the age of 2.
People with Prader-Willi syndrome want to eat all the time because they never feel full (binge eating) and usually have problems controlling their weight. Many complications of Prader-Willi syndrome are due to obesity. Prader-Willi syndrome Treatment in Khammam
Best managed by a team approach, different specialists can work with you to manage the symptoms of this complex disorder, reduce the risk of complications, and improve the quality of life for your loved ones with Prader-Willi syndrome.
symptoms
The signs and symptoms of Prader-Willi syndrome can vary from person to person. Symptoms can change slowly over time from childhood to adulthood.
Toddlers
Signs and symptoms that can be present from birth include:
Low muscle tone. A primary sign in infancy is poor muscle tone (hypotension). Babies can rest with elbows and knees that are loose instead of tight, and they can feel flexible or like rag dolls when held. Prader-Willi syndrome Treatment in Khammam
Clear facial features. Children can be born with almond-shaped eyes, a narrowing of the head at the temples, an upturned mouth, and a thin upper lip.
Bad sucking reflex. Infants may have a poor sucking reflex due to decreased muscle tone. Bad suckling makes feeding difficult and can lead to stunted growth.
Generally poor responsiveness. A baby may appear unusually tired, respond poorly to stimulation, have difficulty waking up, or cry weakly.
The reasons
Prader-Willi syndrome is a genetic disorder, a disease caused by a fault in one or more genes. Although the exact mechanisms responsible for Prader-Willi syndrome have not been identified, the problem lies with the genes located in a specific region of chromosome 15. Prader-Willi syndrome Treatment in Khammam
With the exception of genes related to sexual characteristics, all genes come in pairs – a copy inherited from your father (paternal gene) and a copy inherited from your mother (maternal gene). For most types of genes, when one copy is “active” or expressed, the other copy will also be expressed, although it is normal for some types of genes to act on their own.
Prader-Willi syndrome occurs because some paternal genes that should be expressed are not present for one of the following reasons:
- The paternal genes on chromosome 15 are missing.
- The child inherited two copies of chromosome 15 from the mother and no chromosome 15 from the father.
- There is a mistake or defect in the paternal genes on chromosome 15.
prevention
If you have a child with Prader-Willi syndrome and are planning to have another baby, genetic counseling should be considered. A genetic counselor can help you determine the risk of having another child with Prader-Willi syndrome. Prader-Willi syndrome Treatment in Khammam