Genetic disorders

Krabbe’s Disease: A Rare and Fatal Neurological Disorder

What is Krabbe Disease? Krabbe disease, also known as "Globoid Cell Leukodystrophy," belongs to the group of lysosomal storage disorders (LSDs), specifically the sphingolipidoses. It is a rare, autosomal recessive...

Chronic Granulomatous Disease: Exploring the Rare Immune Disorder

Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This...

Hemolytic Uremic Syndrome: Causes, Symptoms & Care

Hemolytic uremic syndrome (HUS) is a rare yet potentially serious disorder characterized by damage to the kidney's blood vessels. It is a type of...

Pseudohypoparathyroidism: Decoding the Rare Disorder

Pseudohypoparathyroidism (PHP) is a rare hereditary disorder characterized by the resistance or insensitivity of target organs to parathyroid hormone (PTH). The parathyroid glands are...

Prader-Willi Syndrome: Understanding the Genetic Disorder

What is Prader-Willi Syndrome? Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic systems due to abnormalities on chromosome...

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...