Prader-Willi Syndrome is a genetic disorder and is characterized by symptoms such as short stature, low muscle tone, eating disorders and mental retardation. This syndrome is associated with abnormal development or dysfunction of the hypothalamus. Prader-Willi Syndrome is a rare disorder, occurring in approximately one in 10,000 to 30,000 births.
What are the symptoms of Prader-Willi Syndrome?
Orthopedic symptoms of Prader-Willi Syndrome may include short stature, flat feet, scoliosis (curvature of the spine), joint stiffness and pain, orthopedic problems due to obesity and restricted mobility.
How can parents recognize it?
Parents should consult a doctor if they notice symptoms such as developmental delay, low muscle tone, poor sucking reflex and eating disorders in their child. Diagnosis can be made through physical examination, genetic testing and other diagnostic methods.
Do they have a type?
There is only one type of Prader-Willi Syndrome, but the severity and prevalence of symptoms can vary from person to person.
What is the treatment?
Treatment of Prader-Willi Syndrome focuses on symptom management. Methods such as nutrition and exercise programs, hormone therapy, behavioral therapies and dietitian support can be used.
Do I need supportive devices, therapy?
In some cases, supportive devices (for example, orthotics or special chairs) or physical therapy may be recommended for Prader-Willi Syndrome patients. This can help to increase muscle tone, promote mobility and manage orthopedic problems.
In which cases and when is surgery performed?
Surgical intervention is often necessary to manage orthopedic problems in Prader-Willi Syndrome. For example, surgical correction may be considered in cases of severe spinal curvature such as scoliosis or joint problems due to obesity.
What you need to know about Prader-Willi Syndrome
Prader-Willi Syndrome is a genetic disorder and requires a multidisciplinary approach. With early diagnosis and appropriate treatment, it is possible to manage symptoms and improve the patient’s quality of life.