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Congenital Muscular Dystrophy

A daily life

Understanding a Rare Condition

Impact

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

What is it?

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.

How many people are affected

3.6 per 100,000 world wide

U.S. is 5.1 per every 100,000

who is affected?

Anyone can be affected by Congenital Muscular Dystrophy. This disease starts at birth and goes on throughout their whole life.

More males are affected

Research

Treatment

Symptoms

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

what causes this disease?

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.

References

Pathology

  • Mutations in various proteins, especially structural proteins and modifying enzymes, have been linked to muscular dystrophy.
  • Mutations impact muscle function and structure, leading to diverse types of muscular dystrophies and myopathies.
  • A comprehensive review of the wide range of muscular dystrophies and myopathies is too extensive for this review.
  • Genetic mutations play a crucial role in the development and manifestation of muscular dystrophy.
  • Understanding the genetic basis of muscular dystrophy is essential for effective diagnosis and targeted treatment strategies.

"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.

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