Pseudohypertrophic dystrophy

Pseudohypertrophic Dystrophy is a term often used to describe a specific form of muscular dystrophy known as Duchenne muscular dystrophy (DMD). This condition is characterized by rapid progression of muscle degeneration, leading to weakness and serious disability.

Overview

Pseudohypertrophic dystrophy is a genetic disorder that primarily affects boys. It is caused by a mutation in the DMD gene, which is responsible for the production of a protein called dystrophin. Dystrophin is essential for the structural stability of muscle fibers. In the absence of this protein, muscles become damaged and eventually die, leading to the symptoms of the disease.

Symptoms

The symptoms of pseudohypertrophic dystrophy usually begin in early childhood, typically between the ages of 3 and 5. The first noticeable symptom is often difficulty with motor skills such as running, jumping, or climbing stairs. As the disease progresses, muscle weakness becomes more pronounced, and the child may begin to walk on their toes or have a waddling gait. Eventually, most individuals with pseudohypertrophic dystrophy will lose the ability to walk and will require a wheelchair for mobility.

Diagnosis

Diagnosis of pseudohypertrophic dystrophy is typically made through a combination of clinical examination, family history, and genetic testing. A blood test can be used to measure levels of an enzyme called creatine kinase, which is often elevated in individuals with muscular dystrophy. Genetic testing can confirm the presence of a mutation in the DMD gene.

Treatment

There is currently no cure for pseudohypertrophic dystrophy. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and the use of assistive devices such as braces or wheelchairs. Medications may also be used to slow the progression of the disease and manage symptoms.

See Also

• Muscular Dystrophy
• Genetic Disorders
• DMD Gene
• Dystrophin