Genetic diseases 2024, December

Hallervorden-Spatz disease is a rare degenerative disease of the nervous system that is genetically determined. It is most often diagnosed in children between ...…

Canavan disease is a severe and incurable degenerative disease of the central nervous system. It is inherited genetically and the only way to treat it is ...…

Radial hemimelia is an underdevelopment of the upper limb caused by the partial or complete absence of the radius bone. A person with this birth defect looks like ...…

Beals syndrome is otherwise congenital contracture arachnodactyly or Beals-Hecht syndrome. The essence of the disease is abnormalities in the structure of the skeleton and muscles. The most dangerous ...…

Only a few years ago, patients with spinal muscular atrophy could only take part in clinical trials of new drugs, use physiotherapy and medical treatment ...…

Sanfilippo disease (mucopolysaccharidosis type III) is an incurable disease in the course of which tissues and organs are damaged, and then to cachexia ...…

Hypophosphatemia is a phosphorus deficiency in the body. This is a dangerous condition that can lead to death. They are exposed to phosphorus deficiency in the body ...…

Maybe soon you won't have to make a pact with the devil to gain longevity. From what we know today, you need to follow a low-calorie diet, live in ...…

XYY Super Male Syndrome is a genetic disease that only men contend with. Contrary to its name, in some cases it can lead to problems with the libido ...…

Kabuki syndrome is associated with intellectual disability, but the most characteristic symptom that occurs in all patients is facial dysmorphia ...…

Super Female XXX Syndrome is a genetic disease that only affects women. The characteristic symptoms of the disease are, inter alia, emphasized female features, e.g. a substantial b ...…

Tourette's syndrome (disease) can have different symptoms in children and adults. After puberty, the intensity of the characteristic for this ...…

Homocystinuria is a rare, genetically determined metabolic disease in which the metabolism of the amino acid methionine is abnormal. What are the causes and ob ...…

If I am related to my girlfriend in such a way that her great-grandfather and my great-grandmother are siblings, can our children be mentally retarded ...…

SMA - spinal muscular atrophy - is a disease that until recently was incurable and fatal. In 2016, a light appeared in the tunnel, it was ...…

Favism, or bean disease, is an inherited genetic disease in which life-threatening anemia occurs. Its development may be influenced by ...…

Homeostasis (from Greek - homois - meaning similar, stasis - duration or state) unique ability of the system to maintain the stability of the internal environment b ...…

Even a year and a half ago, there was no effective treatment for SMA in Poland. Currently, as part of the "Treatment of spinal muscular atrophy" program, over 700 patients with ...…

About 2022 SMA patients have been able to benefit from the drug program. We asked prof. dr ha ...…

SMA, i.e. spinal muscular atrophy, is caused by a deficiency of the SMN1 protein necessary for the proper functioning of the motor neurons responsible for the work of ...…

I'm with a boy who has ulcerative colitis. If I decide to have a child, is there a possibility that my child will ...…

If I am related to my girlfriend in such a way that her great-grandfather and my great-grandmother are siblings, can our children be mentally retarded ...…

My daughter had a suspicion of Down syndrome, but the examination did not show it. Genetic test result: culture material - peripheral blood lymphocytes, numbers ...…

I have a problem with excessive sweating of the palms of the feet and the whole body in general. I know it's normal for a person to sweat, but I sweat more than others. What s ...…

Hello, Doctor! My dad died at the age of 48 of lung cancer, from an early age he had anal itching for which he was treated from his youth and until ...…

My daughter is in her second pregnancy. The first one went without any problems and a girl was born. Now we have a problem, because the clinic that performed the ba ...…

If both parents have blue eyes, can their child have brown eyes?…

I want to know if the father with blood type Orh +, mother Arh- can be the father of the daughter and blood type ABrh-. Thank you for your answer.…

If the father has blood type 0rh + and the daughter A or B or AB, are they not related? Thank you.…

My daughter has phenylketonuria. At the disability adjudication committee, the doctor asked when the child was ill. He issued a statement that it is ...…