Describe Duchenne muscular dystrophy and sickle cell anemia.

Duchenne muscular dystrophy is a genetic disorder that primarily affects boys and is characterized by progressive muscle weakness and degeneration. It is caused by a mutation in the gene that encodes for dystrophin, a protein that helps maintain the structure and function of muscle cells. Symptoms typically appear in early childhood and worsen over time, leading to difficulty walking, breathing, and eventually heart failure. There is currently no cure for Duchenne muscular dystrophy, but treatments such as physical therapy and medications can help manage symptoms and improve quality of life.

Sickle cell anemia is a genetic blood disorder that affects the shape of red blood cells. It is caused by a mutation in the gene that encodes for hemoglobin, a protein that carries oxygen in the blood. In individuals with sickle cell anemia, red blood cells become rigid and sickle-shaped, leading to blockages in blood vessels and reduced oxygen delivery to tissues. This can cause episodes of severe pain, organ damage, and an increased risk of infections. Treatment for sickle cell anemia includes medications to manage symptoms, blood transfusions, and in severe cases, bone marrow transplants.

Duchenne Muscular Dystrophy (DMD)

- Definition: A genetic disorder characterized by progressive muscle weakness and degeneration.
- Cause: Mutations in the dystrophin gene, which encodes a protein essential for maintaining muscle cell integrity.
- Symptoms:
- Muscle weakness and fatigue
- Progressive difficulty walking, standing, and climbing stairs
- Enlarged calf muscles (pseudohypertrophy)
- Respiratory and cardiac problems
- Cognitive impairment in some cases
- Inheritance: X-linked recessive, affecting primarily males

Sickle Cell Anemia

- Definition: An inherited blood disorder characterized by abnormal hemoglobin molecules in red blood cells.
- Cause: Mutations in the beta-globin gene, which codes for hemoglobin. These mutations result in the production of sickle-shaped red blood cells.
- Symptoms:
- Episodic pain crises (vaso-occlusive crises) caused by sickle-shaped cells blocking blood vessels
- Anemia due to destruction of sickle-shaped cells
- Fatigue, shortness of breath, and dizziness
- Stroke, heart attack, and other serious complications can occur
- Inheritance: Autosomal recessive, meaning both parents must carry the gene for the child to inherit the disorder.