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A daily life
They don't get to have the most normal life but they have to make a living. There standing or walking tolorance isn't as good as normal person. They also have to be careful of their daily activites.
History
Congenital Muscular Dystrophy has a profound impact on individuals and their families requiring:
- long-term support care
- specialized care
- emotional distress
Challenges of managing the condition include addressing mobility limitations and ensuring comprehensive care.
Depending on what type of Muscular Dystrophy the person has they can live depends on how long they will live. Could be teens-20, 30-40, or could live a long life with the right care.
When: 1903-1904
Who: Batten, but in 1908 Howard coin the term
Where: Germany
How: Batten performs a biopsy of 3 kids' muscles.
Congenital Muscular Dystrophy is characterized by muscle weakness and poor muscle tone. Can start as soon as an infant is born.
3.6 per 100,000 world wide
U.S. is 5.1 per every 100,000
Anyone can be affected by Congenital Muscular Dystrophy. This disease starts at birth and goes on throughout their whole life.
More males are affected
Ongoing research aims to develop potential treatments and improve the quality of life for individuals with Congenital Muscular Dystrophy.
Boston children's hospital
Stanford medicine
Many hospitals around the world
- muscle weakness
- scoliosis
- disabilities
- eye defects
- seizures
Treatment for Congenital Muscular Dystrophy primarily focuses on managing symptoms and providing supportive care.
Different types of therapies.
Caused by genetic mutations
- two copies of the defective gene (one from each parent) are required to produce the disease. Each parent would be a carrier of the gene flaw but wouldn’t usually have the disease. Only one copy is needed to pass on the disease.
"Cellular and Molecular Mechanisms Underlying Muscular Dystrophy." National Library of Medicine, 13 May 2013, www.ncbi.nlm.nih.gov/pmc/articles/PMC3653356/. Accessed 23 Apr. 2024.
"Congenital Muscular Dystrophy." Medscape, 3 July 2019, emedicine.medscape.com/article/1180214-overview#:~:text=In%201903%2C%20Batten%20described%203,another%20infant%20with%20similar%20features. Accessed 22 Apr. 2024.
"Congenital Muscular Dystrophy." YouTube, 26 Jan. 2017, www.youtube.com/watch?v=2cbPrlr4XYM. Accessed 22 Apr. 2024.
Cyr, Kevin. "Muscular Dystrophy Life Expectancy." Verywell Health, 7 July 2023, www.verywellhealth.com/muscular-dystrophy-life-expectancy-5202089. Accessed 23 Apr. 2024.
"Muscular Dystrophy (MD)." Boston Children's Hospital, www.childrenshospital.org/conditions/muscular-dystrophy. Accessed 23 Apr. 2024.
Pasrija, Divij, and Prasanna Tadi. "Congenital Muscular Dystrophy." National Library of Medicine, 3 July 2023, www.ncbi.nlm.nih.gov/books/NBK558956/#:~:text=Congenital%20muscular%20dystrophy%20is%20one,increased%20muscle%20breakdown%20with%20age. Accessed 22 Apr. 2024.