Pompe Disease: Understanding Symptoms & Treatments
What is Pompe Disease?
Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...
Dystrophic Epidermolysis Bullosa: A Rare Skin Disorder
Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...
Ichthyosis Vulgaris: Symptoms, Causes & Treatment
What is Ichthyosis Vulgaris?
Ichthyosis is a skin disease that has many variants. The term "ichthyosis" is derived from the Greek word "ichthys," meaning fish,...
Fabry Disease: Insights into a Rare Condition
Fabry disease is a type of lysosomal storage disease. It is a rare condition in which the body does not make enough of an...
DiGeorge Syndrome: A Closer Look
What is DiGeorge Syndrome?
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is present from birth. The main reason...
Crigler Najjar Syndrome: Understanding a Rare Condition
Crigler Najjar syndrome is an inherited disorder in which genetic abnormality causes a poor function of enzymes involved in bilirubin processing, and it leads...
