Category: Genetic disorders

Before the drug dantrolene became available, the mortality rate for a malignant hyperthermia crisis was over 70%. Today, with rapid diagnosis and aggressive treatment, the answer to **can you recover from malignant hyperthermia** is a resounding yes, though vigilance remains key.

Affecting less than 1 in 22,313 live births, PIK3CA-Related Overgrowth Spectrum (PROS) is a rare genetic condition. The prognosis for PIK3CA overgrowth syndrome is highly variable, depending on the severity and location of the overgrowth.

Affecting an estimated 1 in 12,000 to 15,000 babies, understanding a condition's official name is key for accurate information. So, what is the nickname for brittle bone disease? The clinical and more common term used is osteogenesis imperfecta, or OI.

Skeletal dysplasia refers to a broad group of over 450 genetic conditions affecting bone and cartilage growth, leading to a wide range of physical characteristics and medical complications. Whether **skeletal dysplasia a disability** depends largely on the specific type and the severity of its impact on an individual's daily life, which can range from mild to severe impairment.

Affecting up to one percent of the global population, von Willebrand disease (VWD) is the most common inherited coagulopathy. Despite its prevalence, many people with mild forms of the condition remain undiagnosed due to the subtlety of their symptoms. This guide explains everything you need to know about the most common coagulopathy.

Malignant hyperthermia (MH) is a rare inherited pharmacogenetic disorder affecting approximately 1 in 100,000 adults, but it can be life-threatening if triggered during surgery. This guide explains exactly what are the triggers of malignant hyperthermia in susceptible individuals.

Marfan syndrome is a genetic disorder affecting the body's connective tissue, and while its effects are widespread, some of its most visible signs appear in the mouth. Understanding **what are the oral symptoms of Marfan syndrome** is crucial for early detection and proper management of this complex condition.

Hemophilia B, also known as Christmas disease, is four times less common than hemophilia A, affecting approximately 1 in 19,283 male births in the US. This inherited bleeding disorder is caused by a deficiency in clotting factor IX, which is essential for proper blood clotting.

In 1984, an 8-year-old child with sickle cell disease and leukemia received a bone marrow transplant, which unexpectedly cured both conditions. This landmark event provides a fascinating answer to the question of **what was the first cure for sickle cell disease?**, setting the stage for decades of further research and groundbreaking treatments.

According to the Centers for Disease Control and Prevention (CDC), Hemophilia A, or classic hemophilia, is the bleeding disorder that results from a deficiency of factor VIII. This inherited condition prevents blood from clotting properly, which can lead to prolonged and excessive bleeding, either spontaneously or after an injury. This article provides a comprehensive overview of hemophilia A, covering its causes, symptoms, diagnosis, and management options.