Dravet Syndrome: Understanding This Severe Epilepsy
Dravet syndrome is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...
Hurler Syndrome: Understanding Its Causes & Treatments
Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome 4, leading to a deficiency or...
Smith Lemli Opitz Syndrome: Understanding Its Impact & Care
Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol metabolism. This syndrome restricts the growth...
Fibrodysplasia Ossificans Progressiva: A Rare Disorder
Fibrodysplasia ossificans progressive (FOP), previously known as myositis ossificans progressiva (MOP) and also referred to as Münchmeyer disease or Stoneman disease, is a rare...
Pearson Syndrome: A Rare Mitochondrial Disorder
What is Pearson Syndrome?
Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an...
Malignant Hyperthermia: Recognize & Respond to This Emergency
Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a patient in response to the anesthetic...
