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Genetic Disorders Essays

Understanding Muscular Dystrophies: A Pathophysiological Analysis

Introduction Muscular dystrophies represent a spectrum of genetic diseases characterized by the progressive wasting and disintegration of muscles. In an attempt to provide an all-encompassing overview of muscular dystrophies, this review is further explored by considering the normal functioning of the muscular system, the molecular mechanisms of the disease, possible preventive options, predominant treatment methods, ... Read More
Pages: 5       Words: 1353

Research Paper on Ectrodactyly (Lobster Claw Hand)

Introduction Ectrodactyly characterizes a rare congenital hand anomaly. It involves the absence of one or more central digits of the hand and a deep median cleft, often extending up to the forearm. The name ectrodactyly derives from the Greek words ektroma, meaning “abortion,” and daktylos meaning “finger”. German physiologist Johann Friedrich Meckel first described this ... Read More
Pages: 5       Words: 1308
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Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a hereditary disorder that weakens and wastes away muscles due to damage to the motor neurons in the spinal cord. It results from a change in the SMN1 gene on chromosome 5. SMA can present in different forms, ranging from severe infantile-onset SMA to milder forms that may appear later ... Read More
Pages: 4       Words: 1032
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