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Editor's Choice
Myasthenia Gravis: The Autoimmune Disease That Makes Muscles Tire Rapidly
Myasthenia Gravis, commonly called MG, is a rare autoimmune neuromuscular disorder that causes weakness and rapid fatigue of muscles. Unlike muscular dystrophies which are genetic diseases where muscles gradually degenerate…
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Editor's Choice
Becker Muscular Dystrophy: How It Differs From Duchenne and What to Expect
Becker Muscular Dystrophy, commonly called BMD, is a genetic neuromuscular disorder that causes progressive muscle weakness and degeneration, similar to Duchenne Muscular Dystrophy but much milder and slower progressing. Like…
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Editor's Choice
Duchenne Muscular Dystrophy: What Families Need to Know About This Progressive Disorder
Duchenne Muscular Dystrophy, commonly called DMD, is a rare genetic disorder that causes progressive weakness and degeneration of skeletal muscles, the muscles that help you move, as well as the…
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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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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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