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Genetic disorders

Hunter Syndrome: Understanding This Rare Genetic Disorder

Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in males. The estimated incidence is...

Batten Disease: Understanding Symptoms & Treatment Options

Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in...

MODY Diabetes: Unraveling the Unique Form of Diabetes

MODY Diabetes Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover...

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...

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...

Maple Syrup Urine Disease: A Rare Metabolic Challenge

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects how the body breaks down certain amino acids. Amino acids are the...

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...

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....