What is the disease called skids its passed on maternal side of family and kills sons?
The disease you are referring to is Duchenne muscular dystrophy (DMD). DMD is a genetic disorder that is passed down from mothers to their sons. It is characterized by progressive muscle weakness and degeneration. DMD is caused by a mutation in the dystrophin gene, which is located on the X chromosome.
Here are some key points about DMD:
Inheritance: DMD is an X-linked recessive disorder. This means that the affected gene is located on the X chromosome. Males are more commonly affected by DMD because they have only one X chromosome, while females have two. Females who carry the DMD gene mutation are called carriers. They may not have any symptoms of the disorder themselves, but they can pass the mutation on to their children.
Symptoms: DMD typically presents in early childhood, between the ages of 2 and 5 years. Initial symptoms include muscle weakness, difficulty walking, and frequent falls. As the disease progresses, muscle weakness becomes more severe, affecting the arms, legs, and torso. Individuals with DMD may also experience joint contractures, curvature of the spine (scoliosis), and respiratory problems.
Diagnosis: DMD is diagnosed based on a combination of factors, including symptoms, physical examination, genetic testing, and muscle biopsy. Genetic testing can identify the specific mutation in the dystrophin gene that is causing the disorder.
Treatment: There is no cure for DMD, but there are treatments available to manage the symptoms and slow the progression of the disease. These treatments include corticosteroids, physical therapy, occupational therapy, and respiratory support. Recently, promising gene therapy approaches have shown potential in treating DMD.
Prognosis: DMD is a progressive disorder, and the condition typically worsens over time. Individuals with DMD have a shortened life expectancy, with most living into their 20s or 30s. Respiratory complications are often the leading cause of death in DMD.
If you have concerns about DMD or have a family history of the disorder, it is important to talk to a healthcare professional for evaluation and genetic counseling.