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https://musculardystrophypakistan.websites.co.in/update/dechene-muscular-dystrophy-dmd/3039125
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder that primarily affects boys, causing progressive muscle degeneration and weakness. It is one of the most common and severe types of muscular dystrophy.
Signs and Symptoms
Symptoms typically appear in early childhood, usually between ages 2 and 5. They include:
Difficulty walking, running, or jumping
Frequent falls
Waddling gait
Enlarged calf muscles (pseudohypertrophy)
Weakness in the hips, thighs, shoulders, and pelvic musc...
https://musculardystrophypakistan.websites.co.in/update/genetic-testing/3018002
What is Genetic Testing?
Genetic testing is a medical test that analyzes DNA to identify genetic mutations or variations that may cause or increase the risk of diseases. It helps diagnose genetic disorders, predict the likelihood of developing certain conditions, and guide treatment options.
Process of Genetic Testing
1. Sample Collection – A healthcare provider collects a sample of blood, saliva, or a tissue swab (cheek swab).
2. DNA Extraction – The DNA is isolated from the sample in...
https://musculardystrophypakistan.websites.co.in/update/why-genetic-testing-is-important-for-muscular-dyst/3017986
Genetic testing is crucial for Muscular Dystrophy (MD) because it helps in diagnosis, prognosis, treatment decisions, family planning, and research advancements. Here’s why it’s important:
1. Accurate Diagnosis
MD includes various types (e.g., Duchenne, Becker, Limb Girdle, etc.), and symptoms can overlap. Genetic testing identifies the specific mutation causing the disease, ensuring an accurate diagnosis.
2. Better Prognosis & Management
Knowing the exact genetic mutation helps predict di...
3 results found.
https://musculardystrophypakistan.websites.co.in/pages/dechene-muscular-dystrophy/431695
Duchenne Muscular Dystrophy (DMD) is a severe, progressive neuromuscular disorder that primarily affects boys. It is caused by mutations in the DMD gene, which leads to a deficiency of dystrophin, a protein essential for muscle function.
Key Features of DMD:
Genetic Cause: X-linked recessive inheritance (mostly affects males, while females can be carriers).
Symptoms: Muscle weakness begins in early childhood (around ages 2-5), affecting the legs first and later spreading to the arms and tor...
Rare Diseases
https://musculardystrophypakistan.websites.co.in/pages/rare-diseases/431693
Rare diseases are medical conditions that affect a small percentage of the population. While each rare disease may impact only a limited number of individuals, collectively, rare diseases affect millions of people worldwide. Here are some key aspects of rare diseases:
Definition & Prevalence
A disease is considered rare when it affects a small portion of the population. The definition varies by country:
USA: Fewer than 200,000 people per disease.
Europe: Less than 1 in 2,000 people.
Pakis...
Muscular Dystrophies (MD)
https://musculardystrophypakistan.websites.co.in/pages/muscular-dystrophies-md/431665
Muscular Dystrophy (MD)
Muscular dystrophy (MD) is a group of genetic disorders characterized by progressive muscle weakness and degeneration. These disorders vary in severity, age of onset, and muscles affected. MD occurs due to genetic mutations that interfere with the production of proteins necessary for healthy muscle function.
Types of Muscular Dystrophy
There are several types of muscular dystrophy, including:
1. Duchenne Muscular Dystrophy (DMD)
Most common and severe form, primar...
