Biology Journal Day 5

Hello, everyone. Today I decided to do the next question on genetic disorders.  I have chosen Duchenne muscular dystrophy which is a genetic disease where the afflicted patient suffers from severe muscular degeneration, leading to paralysis and of course, death.This is caused by a defective gene on the x chromosome . Boys have an x and a y chromosone, girls have double "x"s. So,boys can get the disease if their mother is a carrier, and they happen to receive the defective x chromosone from their mothers. Girls are afflicted only if their father is afflicted and their mother is a carrier and they inherited the x chromosome from their mother which has the defective gene.  This explains why Duchenne Muscular Dystrophy is mostly seen in boys. In some cases, the disease can be caused by a new mutation in a gene rather than from an inherited defective gene.


Symptoms may be seen in children before 5, usually between the ages of two to three years old. The symptoms include getting tired easily, inability to climb stairs, walking with a waddling gait, and appearing clumsy, falling over often, and having difficulty rising from a lying or a sitting position. By the age of ten, most will be needing braces but by age twelve, they would most likely be wheelchair bound. Later, they will suffer from abnormal bone development, resulting in deformities. Most die from their mid-teens to 30 years of age.However, some cases have lived to 40 years old, some even 50!


One can find out whether he or she has muscle disease by the following methods:

1. Blood test
2. Electromyography which measures the changes of electrical activities in the muscle
3. Ultrasonography which uses sound waves to produce precise images of tissues in one's body
4. Muscle biopsy, and 
5. Genetic Testing.

Patients are treated by physical therapy or drugs. Steroids may help improve muscle strength and delay the progression of Duchenne Muscular Dystrophy.  Immunosuppressive drugs are also sometimes prescribed to delay some damage to dying cells. Assistive devices like braces, canes, walkers and wheelchair provide support for weakened muscles and maintain mobility and independence.  These assistive devices also slows down the progression of contractures but when contractures develop, surgery may be needed to release them.

There's a short trailer video of a Duchenne patient call Darius and his brave journey to raise funds for more research into the disease.

Darius goes west