Strength Isn’t Just Physical By: Abby Svoboda High school is tough. There’s pressure to figure out your future and fit in. As I personally learned, most people feel self-conscious. When […]
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Muscular Dystrophy in Children & Teens: Information for Families (Part 2)
Building a Community of Support By: Stephanie & Jon Betts Our son, Henry James, came into the world at 37 weeks, just under 6 pounds, with a distinctly weak, chirping […]
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Muscular Dystrophy in Children & Teens: Information for Families (Part 1)
By: Jenna Klotz, MD, MS, FAAP Muscular dystrophies are genetic muscle disorders which cause progressive muscle weakness. There are more than 40 different types. Symptoms can be present at birth […]
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Charcot–Marie–Tooth disease
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause damage to the peripheral nerves, leading to muscle weakness and sensory loss, primarily in the arms and legs. Overview Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting approximately 1 in every 2,500 people. It is also known as hereditary motor and sensory neuropathy. The disease is named after the three doctors who first described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. Causes CMT is caused by genetic mutations that affect the peripheral nerves, which are responsible for transmitting signals between the brain and spinal cord to the rest of the body. These mutations can lead to damage in the nerve fibers or the myelin sheath that insulates them. There are over 30 known genetic causes of CMT, and the condition is inherited from one or both parents. Symptoms Symptoms of Charcot-Marie-Tooth disease typically begin in adolescence or early adulthood and may include: Diagnosis and Treatment Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing. While there is currently no cure for CMT, treatments focus on managing symptoms and improving quality of life. Common approaches include: Conclusion Charcot-Marie-Tooth disease is a progressive condition that can significantly impact daily life, but with appropriate management and support, many individuals lead active and fulfilling lives. If you suspect you or a family member may have CMT, it is important to consult a healthcare professional for proper evaluation and guidance. Sources Mayo Clinic, Cleveland Clinic, Johns Hopkins Medicine. References https://www.bing.com/search?q=what+is+charcot+marie+tooth+disease&qs=SS&pq=what+is+charcot-marie-tooth+disease&sc=12-35&cvid=E024CD4C52C44522959000F8EDCDB8DA&FORM=QBRE&sp=1&lq=0
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What is Muscular Dystrophy (September is International Muscular Dystrophy month)
Muscular dystrophy (MD) is an ‘umbrella’ term that refers to a wider group of more than 75 genetically inherited neuromuscular conditions which cause progressive deterioration of muscle strength and function. […]
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What You Should Know About Spinal Muscular Atrophy (SMA)
MONDAY, Aug. 11, 2025 (HealthDay News) — Spinal muscular atrophy (SMA) is a genetic neuromuscular disease affecting specialized nerve cells that control voluntary muscle movement, according to the Muscular Dystrophy Association (MDA). […]
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35 Facts About Muscular
Source: Medlineplus.gov Muscular Dystrophy is a group of genetic disorders that cause progressive muscle weakness and loss. Ever wondered what makes this condition so unique? Here are 35 facts that will help you understand muscular […]
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What’s the Difference Between ALS and Muscular Dystrophy?
ALS and muscular dystrophy both lead to progressive muscle weakness and have no cure. But despite these similarities, they have many differences in other symptoms, causes, and treatment. Amyotrophic lateral […]
Read MoreStem cells
By Muscular Dystrophy UK What are stem cells? Our bodies are made up of many different types of cells that are specialised to perform particular functions. For example, the individual […]
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Congenital Muscular Dystrophy
Autosomal recessive is generally the manner in which CMD is inherited Specialty – Neurology Symptoms – Muscle weakness Types – 17 types of CMD Diagnostic method – NRI, EMG Treatment – Currently […]
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