MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults.
Several major forms of muscular dystrophy can affect teens, each of which weakens different muscle groups in various ways:
The life expectancy (in other words, how long a person may live) for many of these forms of muscular dystrophy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected
recessive
Huntington's disease is caused by a gene mutation, specifically in the HTT gene on chromosome 4.
The protein missing from the generic mutation in the X-linked dystrophin gene is dystrophin. Dystrophin is a key structural protein that helps maintain the integrity of muscle fibers. Its absence leads to muscular dystrophy, a progressive weakening of muscles.
No, it's caused by a single point mutation of a gene.
sickle-cell anemia.
Cystic fibrosis is primarily caused by mutations in the CFTR gene, which is located on chromosome 7. These mutations can result in a defective or non-functioning CFTR protein, leading to the characteristic symptoms of the disease.
A gene mutation can be caused by radiation. A gene mutation can also be inherited from family members, such as grandparents and parents.
There are many thousands of different mutations.
The gene is on the short (p) arm of the X chromosome. The gene is known as the dystrophin gene, or simply DMD. It is the longest gene known in the human genome, and codes for the protein dystrophin. According to Aminoff, 2005; the point mutation causing Duchenne Muscular Dystrophy is exhibited on the Xp21 gene, belonging to the above stated chromosome.
No, it is a dominant gene
Yes, Canavan disease is caused by a mutation in the ASPA gene. This gene provides instructions for making an enzyme called aspartoacylase, which is essential for the breakdown of a compound called N-acetylaspartate. Mutations in the ASPA gene lead to the accumulation of N-acetylaspartate in the brain, causing the characteristic features of Canavan disease.
A frameshift mutation in the CARD15 gene