Duchenne Muscular Dystrophy (DMD)
Description
Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder that primarily affects males. It is characterized by progressive muscle weakness and degeneration, leading to a range of physical challenges. This comprehensive guide delves into the complexities of DMD, providing insights into its causes, symptoms, diagnosis, management, and resources for families seeking support and information.
Genes Involved
Genes Involved:
- DMD Gene: Located on the X chromosome, this gene provides instructions for making dystrophin, a protein essential for muscle function.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Delayed Motor Development: Difficulty with walking, running, and climbing stairs.
- Muscle Weakness: Initially in the legs, hips, and pelvic area, gradually spreading to the arms and shoulders.
- Frequent Falls: Difficulty maintaining balance and coordination.
- Enlarged Calf Muscles: Due to muscle fiber breakdown and replacement with fatty tissue.
- Difficulty Breathing: Weakness of the respiratory muscles.
- Scoliosis: Curvature of the spine.
- Cardiomyopathy: Heart muscle weakness.
Causes
Causes:
- Genetic Mutation: DMD is caused by mutations in the DMD gene, most often inherited from a carrier mother. The mutation leads to a deficiency or absence of dystrophin, impairing muscle function.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
- X-Linked Recessive Inheritance: DMD is inherited in an X-linked recessive pattern. This means that females are typically carriers, while males are more likely to be affected.
- Carrier Mothers: Female carriers have one copy of the mutated DMD gene and one normal copy. They usually do not exhibit symptoms but have a 50% chance of passing the mutated gene to their children.
- Recurrence Risk: The risk of having a child with DMD depends on the genetic makeup of the parents. Genetic counseling can provide personalized information about recurrence risk.
