Pompe disease is a glycogen storage disease of unpredictable course. Symptomatology is characterized by progressive muscle weakness. Success has now been observed in therapy by artificial administration of the causative enzyme. What is Pompe disease? Storage diseases are a heterogeneous group of diseases in which various substances are deposited in organs or cells of the … Pompe Disease: Causes, Symptoms & Treatment
Cystinosis is the name given to a hereditary metabolic disease. It involves excessive accumulation of cystine in numerous organs. What is cystinosis? Cystinosis is a congenital metabolic disorder that is inherited. It is also known as cystinosis, cystine storage disease, amine diabetes, Abderhalden-Fanconi syndrome, or Lignac syndrome. In most cases, the disease manifests in childhood. … Cystinosis: Causes, Symptoms & Treatment
Aicardi-Goutières syndrome is an enormously rare, autosomal recessive genetic mutation that causes a genetically heterogeneous developmental disorder in the brains of infants around three months of age and is associated with spasticity and epilepsy in addition to severe motor impairments. A maximum life expectancy of ten years is considered a guideline for severe phenotypes, although … Aicardi-Goutières Syndrome: Causes, Symptoms & Treatment
Neck fold measurement is a non-invasive examination performed at 12 to 14 weeks of pregnancy. A high-resolution ultrasound machine is used to determine the thickness of the neck fold of the unborn baby. This allows conclusions to be drawn about any genetic disorders. What is nuchal fold measurement? A high-resolution ultrasound machine is used to … Neck Wrinkle Measurement: Treatment, Effect & Risks
Diseases that are “passed from parents to children” are referred to in common parlance as hereditary diseases. Genetic diseases are divided into three groups: chromosomal abnormalities, monogenic diseases, and polygenic inherited diseases. What are inherited diseases? Hereditary diseases are clinical pictures or diseases that arise due to errors in the hereditary dispositions or are newly … Hereditary Diseases: Causes, Symptoms & Treatment
In medicine, amniocentesis is called amniocentesis and is an examination of the fluid surrounding the baby in the uterus. This examination of the amniotic fluid gives women the opportunity to find out even before birth whether their child is sick, for example, or whether there is a blood group incompatibility between mother and child. The … Amniocentesis
Aniridia, also known by the medical synonyms iris aplasia and irideremia, refers to a congenital defect of the iris, or iris, of both eyes. It is a rare hereditary disease that may be associated with diseases in other parts of the body. The disease is considered incurable, but general life expectancy is not limited. What … Aniridia: Causes, Symptoms & Treatment
Intrauterine growth retardation refers to a prenatal disorder of development. Synonyms for intrauterine growth retardation are prenatal dystrophy and fetal hypertrophy. What is intrauterine growth retardation? Intrauterine growth retardation is a pathologic delay in the growth of an unborn child in the uterus (womb). Affected infants are referred to as SGA infants. SGA stands for … Intrauterine Growth Retardation: Causes, Symptoms & Treatment
Gastroschisis is a malformation of the child’s abdominal wall that develops while the child is still in the womb. Due to causes that are not yet clear, the abdominal wall splits and internal organs leak out. Therapy for the condition must be given immediately after birth. What is gastroschisis? Gastroschisis is an abdominal wall defect … Gastroschisis: Causes, Symptoms & Treatment
Fraser syndrome is a very rare genetic disorder characterized by multiple physical malformations. The expression of the individual malformations is not uniform, so that in addition to cases of stillbirths and children who die immediately after birth, there are also affected individuals with normal life expectancy. Therapy depends on the type of malformation. What is … Fraser Syndrome: Causes, Symptoms & Treatment
Introduction The amniotic fluid is the clear liquid that is found in the amniotic sac of a pregnant woman, where it helps to protect the embryo or fetus. At an early stage of embryonic development, two separate cavities are created: the amniotic cavity and the chorionic cavity. From the 3rd month, these two cavities merge … Amniotic fluid
Tasks The amniotic fluid fulfils several important tasks. On the one hand, it serves to protect the embryo or fetus by allowing it to float, and to absorb and dampen external shocks to a certain extent. In addition, the amniotic fluid can compensate for slight temperature fluctuations. Furthermore, it enables the unborn child to perform … Tasks | Amniotic fluid
