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Merosin Deficient Congenital Muscular Dystrophy PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Merosin Deficient Congenital Muscular Dystrophy".

This medical PowerPoint presentation is about Merosin Deficient Congenital Muscular Dystrophy (MDC1A), a rare genetic disorder that affects muscle function. It is caused by mutations in the LAMA2 gene, which provides instructions for making a protein called laminin alpha-2. This protein is important for the proper development and maintenance of muscle tissue.

People with MDC1A typically have muscle weakness and poor muscle tone (hypotonia) at birth, and may have difficulty breathing and swallowing. They may also have joint contractures and scoliosis, which can lead to skeletal deformities. Other symptoms may include delayed motor development, cognitive impairment, and seizures.

Diagnosis of MDC1A is typically based on clinical examination, muscle biopsy, and genetic testing. There is currently no cure for the disorder, and treatment focuses on managing symptoms and providing supportive care.

Physical therapy, orthopedic interventions, and respiratory support may be helpful in managing the symptoms of MDC1A. Research is ongoing into potential treatments, including gene therapy and stem cell therapy. Genetic counseling is also important for families affected by MDC1A, as the disorder is inherited in an autosomal recessive manner, meaning both parents must carry a mutated copy of the LAMA2 gene for their child to be affected.

Tags : Merosin Deficient Congenital Muscular Dystrophy, MDC1A, muscle function, mutations in the LAMA2 gene, Pediatrics, Pediatrics PowerPoint presentation

Published on : Jun 23, 2023 | Views : 1218 | Downloads : 0

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Transcript

Slide 1-

Merosin DeficientCongenital Muscular Dystrophy
Slide 2-

Cause and Diagnosis
Slide 3-

Autosomal Recessive
Slide 4-

CMD Magnetic Resonance Imaging (MRI) Muscle Biopsy Merosin Deficient CMD
Slide 5-

Flaws in the Brain
Slide 6-

Lack of All or SomeMuscle Protein, Merosin Merosin + Merosin - Somewhat Merosin -
Slide 7-

ppt slide no 7 content not found
Slide 8-

White Matter Abnormalitiesin the Brain – visible in MRIs - no affect on brain functioning
Slide 9-

Seizures
Slide 10-

Effects on the Muscular System
Slide 11-

Muscle Weakness Merosin levels are somewhat low; children walk by 2 or 3 Merosin is completely deficient; children never walk
Slide 12-

General muscle weakness Poor head control Decreased tone in skeletal muscles Delayed motor milestones Contractures
Slide 13-

Chewing and Swallowing This is difficult due to general muscle weakness, according to pediatric R.N. Wendy Yandle. A G-tube is a port implanted into the stomach to give supplemental nutrition.
Slide 14-

Breathing Breathing very shallow, especially at night; a ventilator is often used
Slide 15-

Treatments Available(from a site called “Congenital Muscular Dystrophy” Physical Therapy (PT) Regular stretching to maintain range of motion and prevent/delay contractures Frequent exercise is important to maintain health Strenuous exercise damages muscles Occupational Therapy (OT) “Occupational therapy involves using methods and tools to compensate for the loss of strength and mobility…”
Slide 16-

Scoliosis Surgery
Slide 17-

Other Surgeries Relieving of tendon tension to eliminate or lesson contractures Insertion of a G-tube for supplemental feedings.
Slide 18-

The End