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Duchenne Muscular Dystrophy and Dystrophin

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Incidence Rate and Pattern of Inheritance

Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.

In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene.

Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.

Picture shows a health father and mother with the mother being a carrier, has four children, and higher possibility of a son acquiring the disorder since the disorder is a x-linked pattern of inheritance.

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What are the challenges encountered and life expectancy of people with this disorder?

Historically, most boys who have it do not survive beyond their mid-twenties, and those that do will be using a wheelchair by age 12 and experience social isolation. The simplest of tasks become difficult, and in the later stages, heart and breathing muscles begin to fail. Nearly 15,000 boys are living with the disease in the United States alone and over 300,000 worldwide. The disorder knows no cultural, economic, or social boundaries.

Muscular dystrophies are a group of genetic disorders characterized by muscle weakness. Duchenne is the most common and severe form, caused by loss of dystrophin, beneath the sarcolemma. The molecular mechanisms of the disease have been extensively investigated since the discovery of the gene in 1986.

Until relatively recently, boys with DMD usually did not survive much beyond their teen years. Thanks to advances in cardiac and respiratory care, life expectancy is increasing and many young adults with DMD attend college, have careers, get married and have children. Survival into the early 30s is becoming more common, and there are cases of men living into their 40s and 50s.

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What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a genetic disease that involves the deterioration of muscles through progress over time and usually affects boys. Duchenne is the more common form of muscle dystrophy, thus, the number of people acquiring this genetic disease increases throughout the years.

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Treatment and Rehabilitation

There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medications and in severe cases a heart transplant may be necessary. Assistive devices for breathing difficulties may be needed, especially at night.

Physical activity is encouraged for individuals with Duchenne muscular dystrophy. Physical inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic devices (such as braces and wheelchairs) may improve the ability to move and take care of oneself.

Steroids are usually given to individuals with Duchenne muscular dystrophy to help improve the strength and function of muscles. 

There are a few different steroids that can be used to treat DMD: 

prednisone is a steroid that has been shown to extend the ability to walk by 2 to 5 years. Prednisone is used alone or with other medications to treat the symptoms of low corticosteroid levels (lack of certain substances that are usually produced by the body and are needed for normal body functioning)

deflazacort (another form of prednisone), is used in Europe and believed to have fewer side effects. Deflazacort is in a class of medications called corticosteroids. It works by reducing inflammation (swelling) and by changing the way the immune system works

 oxandrolone, a medication used in a research study, also has similar benefits to prednisone, but with fewer side effects. Oxandrolone is in a class of medications called androgenic hormones. It works by increasing the amount of protein made by the body. This protein is used to build more muscle and increase body weight

In addition, cyclosporine has also been used as a treatment for DMD, and has improved muscle function in children. Although, its use is controversial because it can cause myopathy, which is a muscle disease that causes muscle weakness.

There are several other therapies that are also being researche such as, including exon skipping drugs, coenzyme Q10, idebenone, glutamine, and pentoxifylline.

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Hallmarks: Duchenne muscular dystrophy

The following are the characteristics of the genetic disorder:

Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged. 

By the early teens, the heart and respiratory muscles also are affected.

The following symptoms are:

fatigue

learning difficulties

intellectual disability (possible, but does not get worse over time).

Symptoms for muscle weakness include:

begins in the legs and pelvis 

occurs less severely in the arms, neck, and other areas of the body

has problems with motor skills (running, hopping, jumping)

frequent falls

has trouble getting up from a lying position or climbing stairs

weakens quickly

Symptoms about progressive difficulty in walking: 

ability to walk may be lost by age 12 

possibility to use a wheelchair when becoming a teenager

To add:  breathing difficulties and heart disease usually start by age 20

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Diagnosis

Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (closest to the trunk of the body) than distal muscles (those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs), symptoms before the age of 5 years old and wheel chair dependency before age 13.

Testing for DMD includes: a blood test which measures the levels of serum creatine phosphokinase (CPK); electromyography which is used to distinguish conditions that only impact the muscles (myotonic) from those that involve that brain and muscles (neurogenic); a skeletal muscle biopsy which is used to detect the presence of specific proteins with a visible label (immunohistochemistry) and molecular genetic testing for deletions, duplications, rearrangements, etc. of genetic material.

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History of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) or pseudohypertrophic progressive was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, but until the 1980s, little was known about the cause of any kind of muscular dystrophy. In 1986, MDA-supported researchers identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD. In 1987, the protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.

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                                                     HAREM is <3

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PT Week = Hell Week. Barely moving and currently dying here. But, gonna pass these requirements to pass this sem. Huhuhuhuh ~ T.T (sign)

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Life is so challenging though worth it.

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You're the reason behind my happiness and pain.

quotes

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Picture from the Article: 'Earthquake tips: what to do before, during, and after'

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(Note: Aileen’s spouse and child/children are interchange with Annabelle’s, since Aileen is the older on than Annabelle. Some of the boxes don’t have necessary information since my mom forgot info about them pips.)

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A Christian/Muslim Filipino is a Bayani Oriented (can also be consider as Kundiman Oriented. To salvage what every energy we give, we give it will all our all. To set free and to serve others is what Filipinos do, we help each other through tough moments. We continue to bring power to many even though there’s little to no hope left from a tragedy. Tired but strong, Filipinos do it with everything they’ve got to accomplish their goals, hindrances as their strength, and survive together when misfortune strikes again in our nation.

(photo not mine; source: http://quotesgram.com/mother-teresa-quotes-inspirational/)

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Dear Kuya Man,

First impression was like maldito(HAHAHAHHA), then I realized that you were approachable and friendly. For the following days training with you, thank you for teaching what you have experienced because I knew that you played volleyball much longer than I have. It was explicit. Through time we manage to get close and personal(heh), shared our experiences, improve and hone our skills, and be joyful to each other’s presence. Laughing when with you. 

Just wanna say thank you for all time that nagkuyog tas padung training, sa recess time, ug uban pa. Bisan wa jd koi confidence atong panahon pero ni tabangan jd ko timo. Lamat jd kaau bai. Hope na sa mga kalisud nimo dira sa imong lyfe, ma kaya nimo kai kabalo man ko na ma kaya jd nimo, libero to starting setter makaya nimo, setting drills, gen.math ug uban pa. Ni kaya nimo ug ni tabangan pd ko nimo physically and mentally the moment nagkaila ta. Your a hardworking person as it seems and I admire your aspiration and passion in your craft. 

Ana lng dayun, hope that in life you will find a better meaning and chance to find yourself and what you do in life. Thank you and God Bless.

                                                                                            Your friend,

                                                                                              Larkspur

RESPONSE:

Salamat Lark, wa ko ga expect na in ana ka ka supportive sa ako a(heh), salamat sa imong message nimo para sa ako a ug I really appreciate it. Thanks for being there where I need your support, ‘cause sometimes I feel that I’m not good enough but you, you stayed and stand there, cheering for me that I could do it and that I should never give up. Showing me that I should not give up in what I love. The HARDER the STRUGGLE, the GREATER the TRIUMPH.

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Having hard time studying or even improving one’s study habits. Then this study habits of mine might help you too.

Study with a partner or in groups, and peer teach

Rather than living in a cave with your nose in the books all day, grab a friend from your class and study with them. Group studying helps you to engage and process the information more deeply. You can also divide the class topics and take turns teaching them as creatively as you like. Sometimes the best way to learn something is to teach it, even if you haven’t mastered it yet. Actively engaging the information with someone else not only helps you to learn, but makes studying more enjoyable. Just avoid turning your sessions into social hour. Have fun with it

Paint bigger pictures

Finding ways to connect what you are learning to real life or to other related concepts. It’s harder to remember each piece of a puzzle individually than it is to recall the completed picture. Finding ways to relate pieces of information to help each other and cluster them.

Feed your brain

A hungry brain is an ineffective one. Our brain needs the proper nutrients to keep it going. Because of this, what you eat and drink also play a huge role in how sharp your brain is. Healthy foods provide nutrients to your brain cells to keep them energized; junk foods increase fatigue and tend to lead to the infamous food coma. Hydration is equally important. Your brain cells need water to function properly and increase their efficiency. Staying hydrated is known to combat anxiety and increase short-term and long-term memory function.

Take breaks

Taking breaks should be added to one’s study habits or even improving it. Researchers researched that people who study in long-term hours  tends to have difficulty remember what they have studied rather than those who take breaks, it is ideal to take breaks in between every 30-minutes of studying, since the brain can function properly and it can take rest. And in certain times, maybe if there is a pop quiz tomorrow, you might be able to remember those historical facts you studied yesterday.