D is for Duchenne Muscular Dystrophy

April 22, 2013

Duchenne’s Muscular Dystrophy is a neuromuscular condition that commonly starts a proximal muscle weakness. Gowers sign is common.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects males, with symptoms typically appearing in early childhood. DMD is caused by mutations in the gene responsible for producing a protein called dystrophin, which is necessary for maintaining the structure and function of muscle fibers.

Characteristics of Duchenne muscular dystrophy include:

  1. Muscle Weakness: The initial signs of DMD often involve weakness in the pelvic and hip muscles, resulting in difficulty in climbing stairs, walking, and getting up from a seated or lying position. As the disease progresses, muscle weakness spreads to the upper body and eventually affects the muscles involved in breathing and the heart.
  2. Progressive Nature: DMD is a progressive disorder, meaning that muscle weakness worsens over time. Children with DMD may initially appear delayed in reaching motor milestones, such as walking, and later experience a gradual loss of muscle strength.
  3. Gait Abnormalities: Due to muscle weakness, individuals with DMD often develop a distinctive way of walking, known as a waddling gait. They may walk on their toes and have difficulty keeping their balance.
  4. Enlarged Calves: DMD can cause the calf muscles to become enlarged due to the replacement of muscle tissue with fatty and fibrous tissue.
  5. Contractures: As the disease progresses, muscle contractures may develop, leading to joint stiffness and limited range of motion.
  6. Respiratory and Cardiac Complications: Weakening of the muscles involved in breathing can result in respiratory difficulties and the need for respiratory support. Additionally, DMD can affect the heart muscles, leading to cardiomyopathy (weakening of the heart muscle) and potential heart failure.
  7. Cognitive and Behavioral Challenges: Some individuals with DMD may also experience cognitive and behavioral difficulties, such as learning disabilities, attention deficit hyperactivity disorder (ADHD), and emotional or social challenges. However, intelligence is not typically affected.

Duchenne muscular dystrophy is caused by a mutation in the DMD gene located on the X chromosome. Since males have one X chromosome and females have two, males are more commonly affected by DMD. Females who carry a mutated DMD gene have a 50% chance of passing it on to each of their children, regardless of their gender.

There is currently no cure for DMD, but various interventions can help manage the symptoms and improve quality of life. These may include physical therapy, mobility aids, respiratory support, medications, and orthopedic interventions. Research is ongoing to develop new treatments and therapies aimed at slowing the progression of the disease and addressing the underlying genetic mutation.


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