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Editor's Choice
Spinal Muscular Atrophy (SMA): From Death Sentence to Treatable Condition
Spinal Muscular Atrophy, commonly called SMA, is a rare genetic neuromuscular disorder that causes progressive weakness and wasting of muscles throughout the body. The condition is caused by the loss…
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Editor's Choice
Pompe Disease: When Glycogen Storage Goes Wrong in the Muscles
Pompe Disease is a rare genetic metabolic disorder that affects how the body breaks down and stores a substance called glycogen in muscles and other organs. Glycogen is a form…
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Editor's Choice
Maple Syrup Urine Disease: The Metabolic Disorder
Maple Syrup Urine Disease, commonly called MSUD, is a rare genetic metabolic disorder that affects how the body breaks down certain amino acids called branched-chain amino acids. Amino acids are…
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Editor's Choice
Phenylketonuria (PKU): Why Newborn Screening Has Transformed This Disease
Phenylketonuria, commonly called PKU, is a rare genetic metabolic disorder that affects how the body processes an amino acid called phenylalanine. Amino acids are building blocks that your body uses…
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Editor's Choice
Fragile X Syndrome: The Most Common Inherited Cause of Intellectual Disability
Fragile X Syndrome is a genetic disorder that causes intellectual disability and is the most common inherited cause of intellectual disability in boys worldwide. The condition was first discovered in…
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Editor's Choice
Rett Syndrome: The Neurological Condition That Primarily Affects Girls
Rett Syndrome is a rare neurological disorder that primarily affects girls and causes serious problems with brain development and nervous system function. The condition was first described in 1966 by…
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Editor's Choice
Angelman Syndrome: The ‘Happy Puppet’ Disorder and Why That Name Is Outdated
Angelman Syndrome, often called AS for short, is a rare genetic disorder that affects how the brain and body develop. It is one of the most interesting genetic conditions because…
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Editor's Choice
Prader-Willi Syndrome: Understanding This Complex Genetic Disorder
Imagine a disorder that affects how your body grows, how hungry you feel, and how you develop mentally and physically. Prader-Willi Syndrome, or PWS for short, is exactly this kind…
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Editor's Choice
Alpha-1 Antitrypsin Deficiency: The Lung and Liver Disease You May Have Never Heard Of
Imagine your lungs as tiny air sacs that help you breathe. Your body produces a special protein called alpha-1 antitrypsin (or A1AT for short), which acts like a bodyguard protecting…
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Editor's Choice
Hemochromatosis: The Iron Overload Disease Most People Don’t Know They Have
Imagine a 50-year-old man experiencing progressive fatigue. Exhaustion. Months. Years. Attributed stress work. Lifestyle adjustment. Productivity. Reduced. Joint pain. Hands. Knuckles arthralgias. Morning stiffness. Arthritis. Suspected. Rheumatology evaluation. Imaging. Osteoarthritis.…
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Editor's Choice
Wilson’s Disease: When Copper Accumulates and Poisons the Body
Imagine a 22-year-old man presenting with progressive personality changes. Irritability. Mood swings. Behavioral. Inappropriate. Impulsive. Violent outbursts. Unusual. Family concerned. Friends notice. Drinking alcohol. Escalating. Substance abuse. Developing possibly. Depression.…
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Editor's Choice
Niemann-Pick Disease: What Happens When Lipid Metabolism Fails
Imagine a 3-year-old girl noticing developmental delays. Speech. Motor. Walking. Delayed. Learning. Slower. Playfulness. Diminished. Clumsiness. Increasing. Falling. Coordination poor. Balance impaired. Parents concerned. Pediatrician consulted. Development. Monitored. Therapy. Speech.…
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Editor's Choice
Gaucher Disease: The Most Common Lysosomal Storage Disorder Explained
Imagine a 32-year-old man experiencing progressive abdominal swelling. Distension. Fullness. Months. Enlargement. Visible. Weight gain. Unintentional. Unexplained. Fatigue develops. Malaise. Energy. Reduced. Exertion. Dyspnea shortness breath. Associated. Abdominal pain. Pressure.…
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Editor's Choice
Fabry Disease: The Lysosomal Storage Disorder Misdiagnosed for Decades
Imagine a 28-year-old man experiencing episodic pain extremities. Fingers toes. Pain burning. Severe. Excruciating. Episodes triggered. Heat. Exertion. Fever. Emotional stress. Episodes lasting hours. Days. Variable. Frequency. Multiple times weekly.…
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Editor's Choice
Systemic Mastocytosis: When Mast Cells Accumulate in Places They Shouldn’t
Imagine a 42-year-old woman experiencing episodic flushing. Facial redness. Sudden. Unpredictable. Flushing lasting minutes hours. Associated symptoms. Pruritus itching intense. Facial. Scalp. Tachycardia heart racing. Palpitations. Diarrhea abdominal cramping. Episodes…
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