Advanced searches left 3/3

Cardiac Arrest - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 January 2023

* If you want to update the article please login/register

Glycogen storage disease type 0

Glycogen storage disease type 0 is a disorder that can be caused by the body's inability to produce a complex sugar called glycogen, which is a major source of stored energy in the body. Both muscle and muscle glycogen formation in the muscles is impaired, and liver GSD 0 glycogen production in the liver is impaired. GSD 0's signs and symptoms usually begin in early childhood. Long QT syndrome occurs in some people with muscle GSD 0 and other heart rhythms associated with the normal rhythm. Individuals with liver GSD 0 show signs and symptoms of the condition in infancy and in the infant. During fasting episodes, ketone levels in the blood may rise. These short-term signs and symptoms of liver GSD 0 can often be improved if food is eaten and blood sugar levels in the body return to normal.

Source link: https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-0


Short QT syndrome

Short QT syndrome is a disorder that can cause a disruption of the heart's normal rhythm. Short QT" stands for a specific pattern of heart activity that is detected with an electrocardiogram, which is a measure used to determine heart electrical activity. The arrhythmia associated with short QT syndrome can cause a variety of signs and symptoms, from dizziness and fainting to cardiac arrest and sudden death. However, some people with short QT syndrome have no health issues related to the condition.

Source link: https://medlineplus.gov/genetics/condition/short-qt-syndrome


Malignant hyperthermia

Malignant hyperthermia is a common reaction to particular anesthetic drugs that are often used during surgical and other surgical procedures. If given these medications, people at risk of malignant hyperthermia may experience a dramatic rise in heart rate and body temperature, abnormally fast breathing, muscle breakdown, muscle fibre breakdown, and elevated acid levels in the blood and other tissues. People with an elevated risk of this disorder are thought to have malignant hyperthermia susceptibility, according to people with elevated risk of this disorder. People affected by the condition may not know they have it unless they have a strong reaction to anesthesia during a surgical procedure or have undergone testing. When anesthesia is used, Malignant hyperthermia can not occur every time. Although malignant hyperthermia commonly occurs in people with other medical disorders, certain genetic muscle disorders are associated with malignant hyperthermia susceptibility.

Source link: https://medlineplus.gov/genetics/condition/malignant-hyperthermia


Ankyrin-B syndrome

Ankyrin-B syndrome is associated with a variety of heart disorders due to heart rhythm abnormalities. The heart takes longer than normal to recharge between beats in a small number of people with ankyrin-B syndrome, which is what is described as a long QT interval. In addition, an increase in the heart's upper chambers or lower chambers that may cause an irregular and irregular heart rhythm that leads to a characteristically fast and irregular heart beat in ankyrin-B syndrome. Long QT syndrome 4 is a condition that can be related to a prolonged QT interval. Long QT syndrome 4 is typically related to ankyrin-B syndrome because additional heart abnormalities can arise from mutations in the same gene.

Source link: https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome


Aromatic l-amino acid decarboxylase deficiency

Aromatic l-amino acid deficiency is an inherited condition that affects the way signals are sent between certain cells in the nervous system. In the first year of life, signs and symptoms of AADC deficiency typically appear. Infants affected by developmental delay, inadequate muscle tone, muscle cramp, immobility, and forced crawling movements of the limbs can be problematic. People with AADC deficiency may also experience episodes of oculogyric crises that necessitate abnormal rotation of the eyeballs; extreme irritability and agitation; and muscle spasms; and uncontrolled movements, particularly of the head and neck. The impairment of autonomic nervous system, which regulates mandatory body functions such as blood pressure and body temperature control, could have a determining factor. AADC deficiency signs and symptoms often get worse late in the day or when the individual is hungry, and improve after sleep.

Source link: https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency


Dilated cardiomyopathy with ataxia syndrome

Most people with DCMA syndrome have dilated cardiomyopathy, which is a condition that decreases and enlarges the heart and prevents it from pumping blood properly. Some affected individuals also have long QT syndrome, which is a heart disorder that causes the cardiac muscle to take longer than normal to recover between beats. Heart problems resolve over time, although in the majority of cases of DCMA syndrome, affected individuals do not recover from childhood as a result of heart disease. A tiny minority of people with DCMA syndrome have no heart issues at all. Children with DCMA syndrome have a problem with coordination and balance by age 2, and they have trouble with coordination and balance. Many older children with DCMA syndrome can walk alone, but those with mobility difficulties may delay motor skills such as standing and walking. Most people with DCMA syndrome have a tendency to sweating and walking difficulties, in addition to heart and mobility difficulties, and they die quickly before and after birth, leading to short stature. Many males with DCMA syndrome have genital abnormalities, such as undescended testes or the urethra opening on the penis' underside. DCMA syndrome sufferers have elevated blood levels of a drug called 3-methylglutaconic acid, which is connected to elevated levels of 3-methylglutaconic acid in the urine. DCMA syndrome is one of a group of metabolic disorders that can be diagnosed by elevated levels of 3-methylglutaconic acid in urine. People with DCMA syndrome also have elevated urinary levels of 3-methylglutaric acid, which is also present in urine.

Source link: https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions