What does doctor PWS mean?

summary

Prader Willi syndrome (PWS) is a rare congenital genetic disease, which is a lifelong non Mendelian epigenetic disease caused by abnormal long arm of chromosome 15 (position 15q11-q13), It is a complex syndrome with multiple systematic abnormalities. At present, there is no way to cure the disease. We need to live under supervision all our life. The clinical symptoms are complex and different at any stage of growth and development, so it is easy to be neglected and miss the opportunity of treatment. What does doctor PWS mean? So the following is related to the disease.

What does doctor PWS mean?

First of all: the disease can cause hypotonia, hypogonadism, mental retardation, behavioral problems and long-term strong hunger, leading to excessive food intake and life-threatening obesity. At present, there is no way to completely cure the disease, so we need to live under supervision for life. The incidence rate is gender unknown, and the incidence rate is unknown. China's 5-10 000 patients are expected to increase 1500-4500 cases annually (according to the foreign incidence rate 1/12000 to 1/15000).

Secondly, the clinical symptoms are complex, different age groups show different symptoms and severity of individual differences. Warm reminder: PWS is easy to be diagnosed as cerebral palsy, spinal muscular atrophy (SMA), myasthenia gravis, chondropathy, growth retardation, simple obesity, etc. if you have obesity or the following symptoms, please see a doctor in time for gene detection, early detection, early control and early intervention.

Finally: the etiology and genetic mechanism of PWS are very special and complex. Most of the cases are new mutations, that is, both parents are normal, and only a few are inherited. Most of them can be attributed to the gene errors in the egg (sperm) or embryo formation stage, that is, more than 10 genes on the long arm of chromosome 15 have been omitted or suppressed. The etiology of PWS is due to a gene defect in the imprinted gene region of chromosome 15, and the gene defect comes from the father, or has two chromosome 15 with this defect from the mother at the same time. If the gene defect comes from the mother, it will cause Angelman's syndrome.

matters needing attention

The treatment of PWS should adopt a multi-disciplinary comprehensive management mode including endocrinology, genetics and metabolism, Stomatology, neonatology, ophthalmology, orthopedics, surgery and rehabilitation, neurology, physiotherapy, psychology, nutrition, etc. according to the phenotypic characteristics of children of different ages, effective intervention should be carried out for different endocrine metabolism and related problems.