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Understanding Thomas Syndrome: Symptoms, Causes, Diagnosis, Treatment, and More 1. Introduction Thomas Syndrome, also known as TS, is a rare genetic disorder that affects various systems in the body. It is characterized by a combination of physical, cognitive, and developmental challenges. This syndrome is named after Dr. Michael Thomas, who first described it in the…
TANGO2-Related Metabolic Encephalopathy and Arrhythmias: Understanding the Disease 1. Introduction TANGO2-Related Metabolic Encephalopathy and Arrhythmias, often referred to as TANGO2 disease, is a rare genetic disorder characterized by a combination of neurological and cardiac symptoms. It is a metabolic disorder that affects energy production in the body, leading to a range of symptoms that can…
TDP-43 Proteinopathies: Understanding the Impact and Management 1. Introduction TDP-43 proteinopathies refer to a group of neurodegenerative disorders characterized by the abnormal accumulation of TDP-43 protein in the nerve cells of the brain and spinal cord. This protein plays a crucial role in RNA processing and regulation of gene expression within cells. When TDP-43 protein…
Understanding Thymus Neoplasms: Symptoms, Causes, Diagnosis, Treatment, and More 1. Introduction Thymus Neoplasms refer to abnormal growths or tumors that develop in the thymus, a small organ located in the upper chest beneath the breastbone. The thymus plays a crucial role in the development and maintenance of the body’s immune system. While thymus neoplasms are…
T-cell/histiocyte Rich Large B Cell Lymphoma: Understanding the Disease, Symptoms, Diagnosis, Treatment, and Living with It Introduction T-cell/histiocyte rich large B-cell lymphoma (THRLBCL) is a rare and aggressive type of non-Hodgkin lymphoma. It is characterized by the presence of a small number of large B-cells surrounded by an abundance of reactive T-cells and histiocytes in…
T-cell Prolymphocytic Leukemia: Understanding the Disease, Symptoms, Diagnosis, and Treatment Introduction T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive type of leukemia, characterized by the proliferation of mature T-cells. This condition primarily affects older adults, with a median age at diagnosis of 65 years. T-PLL is a challenging disease to manage due to its…
T-cell Large Granular Lymphocyte Leukemia: Understanding the Disease Introduction T-cell Large Granular Lymphocyte Leukemia (T-LGLL) is a rare, chronic type of leukemia characterized by the abnormal production of T-cell large granular lymphocytes. These lymphocytes are a type of white blood cell that plays a crucial role in the body’s immune system. In T-LGLL, these cells…
Niemann-Pick Disease: Understanding the Rare Genetic Disorder 1. Introduction Niemann-Pick Disease (NPD) refers to a group of rare, inherited metabolic disorders that are characterized by the abnormal accumulation of lipids (fats) within cells throughout the body. This accumulation leads to the impairment of cell function and, consequently, the progressive deterioration of multiple organs and systems….
Niemann-Pick Disease Type A: Understanding the Symptoms, Causes, Diagnosis, and Treatment Introduction Niemann-Pick Disease Type A (NPDA) is a rare, progressive genetic disorder characterized by the body’s inability to metabolize lipids properly. Specifically, NPDA affects the metabolism of sphingomyelin, a type of lipid that accumulates in the body’s cells and tissues, leading to organ damage…
Understanding Neurocutaneous Syndromes: Symptoms, Causes, Diagnosis, Treatment, and Living with the Condition Introduction Neurocutaneous syndromes, also known as phakomatoses, are a group of rare genetic disorders that primarily affect the skin, central nervous system, and eyes. These syndromes often present with distinct cutaneous manifestations along with neurological and ocular abnormalities. Symptoms Individuals with neurocutaneous syndromes…