DUCHENNE MUSCULAR DYSTROPHY

Posted on January 25, 2012 by kenkee481

DOC I HAVE DUCHENNE MUSCULAR DYSTROPHY

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a genetic disease which causes rapid weakness and wasting of muscles.

What is the cause of Duchenne muscular dystrophy?

Duchenne muscular dystrophy is believed to occur as a result of a defective gene for dystrophin (a protein in the muscles).

In Duchenne muscular dystrophy males are more likely to develop symptoms than are women.

Inheritance is usually sex-linked and recessive. The sons of women who are carriers of the disease have a 50% chance of having the disease while the daughters have a 50% chance of being carriers.

Duchenne muscular dystrophy occurs in 0.3 per cent of male infants in the population.

What are the symptoms of Duchenne muscular dystrophy?

Symptoms may appear as early as infancy and include:

1.Fatigue
2.Muscle weakness which is worse in the legs

3.waddling gait

4.use of hands to raise self from floor
4.Difficulty in running, jumping
5.Frequent falling

6,climbing stairs difficult

7.Pseudohypertrophy of the infraspinatus, deltoids , triceps and calf muscles

8.Atrophy of muscles occurs with contractures and deformity

9.Progressive difficulty in walking with ability to walk lost by 12 years of age
10.Most patients at age 12 are confined to a wheelchair.

Signs :

A complete physical examination may show:

1.Abnormal heart muscle (cardiomyopathy)
2.Congestive heart failure
3.Deformities of the chest and back (scoliosis)
4.Enlarged calf muscles which are later replaced by fat and connective tissue (pseudohypertrophy)
5.Loss of muscle mass (wasting)
6.Muscle deformities in the heels and legs
7.Respiratory difficulty due to weakness of lung muscles

Investigations:

1.Electromyography (EMG)
2.Genetic tests
3.Muscle biopsy

What is the Treatment of Duchenne muscular dystrophy?

Treatment of Duchenne muscular dystrophy are usually symptomatic to improve the quality of life as there is no cure for the disease.

Gene therapy may be able to cure by removing the defective gene in the future.

1.Physical activity is helpful to maintain muscle strength and function.
Inactivity may worsen the muscle disease.

2.massage and electrical stimulation of muscles
2.Orthopedic appliances (such as braces and wheelchairs) may increase the ability for self help.

What is the prognosis of Duchenne muscular dystrophy?

Duchenne muscular dystrophy usually leads to rapidly worsening muscular condition.
Death can occurs by age 25 typically from respiratory conditions such as pneumonia.

What are the complications of Duchenne muscular dystrophy?

1.heart disease such as cardiopathy and heart failure
2.muscle deformities such as scoliosis
3.mental impairment which is rare
4.permanent, progressive disability
5.pneumonia or other respiratory infections
6.death from respiratory failure

What is the preventive measures of Duchenne muscular dystrophy?

Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
Genetic couseling will therefore be a great help to prevent the disease.

About kenkee481

Dr Kenneth Kee is still working as a family doctor at the age of 67. However he has reduced his consultation hours to 3 hours in the morning and 2 hours in the afternoon. He first started writing free blogs on medical conditions seen in the clinic in 2007 on http://kennethkee.blogspot.com. His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com This autobiolographical account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Conditions” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com. From which many free articles from the blog was taken and put together into 700 amazon kindle books and some into Smashwords.com eBooks. He apologized for typos and spelling mistakes in his earlier books. He will endeavor to improve the writing in futures. Some people have complained that the simple guides are too simple. For their information they are made simple in order to educate the patients. The later books go into more details of medical conditions. He has published 700 kindle Books on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter. The purpose of these simple guides is to educate patient on health conditions and not meant as textbooks. He does not do any night duty since 2000 ever since Dr Tan had his second stroke. His clinic is now relocated to the Buona Vista Community Centre. The 2 units of his original clinic are being demolished to make way for a new Shopping Mall. He is now doing some blogging and internet surfing (bulletin boards since the 1980's) starting with the Apple computer and going to PC. The entire PC is upgraded by himself from XT to the present Pentium duo core. The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive. He is also into DIY changing his own toilet cistern and other electric appliance. His hunger for knowledge has not abated and he is a lifelong learner. The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned. This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale. Dr Kee is the author of: "A Family Doctor's Tale" "Life Lessons Learned From The Study And Practice Of Medicine" "Case Notes From A Family Doctor" “The Amazing Story of the Cold Sore Virus” “Of Bed Bugs, Lice And Scabies! 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14 Responses to DUCHENNE MUSCULAR DYSTROPHY

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Royce Cinadr says:

January 25, 2012 at 9:14 am

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peng peng says:

January 25, 2012 at 5:48 pm

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January 25, 2012 at 6:45 pm

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Golf Club Grip says:

January 25, 2012 at 6:45 pm

Hmm it looks like your blog ate my first comment (it was super long) so I guess I'll just sum it up what I had written and say, I'm thoroughly enjoying your blog. I too am an aspiring blogger but I'm still new to the whole thing. Do you have any helpful tips for inexperienced blog writers? I'd certainly appreciate it.

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January 25, 2012 at 7:40 pm

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Steve says:

January 26, 2012 at 8:47 am

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January 27, 2012 at 7:35 am

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