Myotonia Congenita: Symptoms And Treatment
Myotonia Congenita (MC) is a rare inherited neuromuscular disorder in which the muscles are not able to relax after contraction. This results in muscle...
Niemann-Pick Disease: Understanding Symptoms & Treatment
Niemann-Pick Disease is a lipid-storage disorder marked by the excessive accumulation of lipids, including waxes, oils, and cholesterol, in various organs such as the...
Hereditary Hemochromatosis: Understanding Its Impact & Care
Hereditary Hemochromatosis is an inherited iron overload disorder characterized by excessive iron absorption due to hepcidin deficiency. There are four different types of hereditary...
Lymphangioleiomyomatosis: Understanding Rare Lung Disease
Lymphangioleiomyomatosis, also known as LAM, is a rare, progressive disease that predominantly affects the lungs but can also impact the kidneys and lymphatic system....
Hypophosphatasia: Understanding A Rare Genetic Disorder
What is Hypophosphatasia?
Hypophosphatasia is a rare inborn metabolic disorder that affects the mineralization of bone and teeth.
Phosphate is one of the essential minerals necessary...
Biotinidase Deficiency: Understanding the Genetic Disorder
Biotinidase Deficiency is an inherited autosomal recessive disorder in which the enzyme biotinidase is deficient. The enzyme helps to recycle the vitamin biotin, and...
