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Fragile X Syndrome: Symptoms, Causes, and Treatment

Introduction: Fragile X syndrome is a genetic disorder that affects individuals, typically males, causing intellectual disabilities and various physical characteristics. It is caused by a change or mutation in the FMR1 gene on the X chromosome. Fragile X syndrome is the most common inherited cause of intellectual disability, affecting about 1 in 4,000 males and […]
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Prader-Willi Syndrome: A Complex Genetic Disorder

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterized by a wide range of physical, cognitive, and behavioral challenges. It was first described in 1956 by Swiss doctors Andrea Prader, Heinrich Willi, and Alexis Labhart. Causes and Genetic Basis of Prader-Willi Syndrome: PWS is caused by the abnormal function of specific genes located on […]
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Phenylketonuria (PKU): Symptoms, Diagnosis, and Treatment

Introduction: Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine. PKU is a rare disorder, affecting only about 1 in 10,000 to 15,000 newborns in the United States. However, all newborns must be screened for PKU shortly after birth, as early diagnosis and treatment can prevent […]
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Myopathies: Causes, Diagnosis, and Treatmen

Introduction: Myopathy is a category of muscular diseases characterized by the dysfunction or damage of skeletal muscles. It encompasses various conditions that affect muscle structure, function, or both. Types and Classification of Myopathy: Several types of myopathies are characterized by distinct features and causes. • Inflammatory Myopathies: This group includes conditions such as polymyositis and […]
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Myelopathies: Causes, Diagnosis, and Treatment

Introduction: Myelopathies are neurological conditions characterized by damage or dysfunction of the spinal cord, leading to a range of symptoms. They may occur due to various factors such as trauma, inflammation, infections, degenerative diseases, vascular issues, or tumors. The spinal cord is vital in transmitting nerve signals between the brain and the rest of the […]
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Myasthenia Gravis: Symptoms, Causes, and Treatment

Introduction: Myasthenia gravis is an autoimmune disorder caused by an error in communication between nerve cells and muscles. It results in muscle weakness in voluntary muscles, most often in the muscles of the eyes, face, neck, and arms. Myasthenia gravis affects approximately 1 in 5,000 people in the United States, although specific ethnic populations, such […]
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Medulloblastoma: Symptoms, Causes, and Treatments

Introduction: Medulloblastoma is a type of brain tumor that primarily affects children. It starts in the lower back part of the brain called the cerebellum, which is responsible for coordinating movement and balance. Classification of Medulloblastoma: Medulloblastomas are classified as a type of embryonal tumor, meaning they arise from embryonic cells that didn’t develop normally. […]
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