DUCHENNE MUSCULAR DYSTROPHY

Amna Shabbir and M.Imran Qadir*

College of Pharmacy G.C University Faisalabad
Pakistan.
Correspondence*[email protected]

SUMMARY
Duchenne muscular dystrophy is a hereditary disease caused by mutation in X-
chromosomes which causes damage to muscles, inability to walk and expiry of human
body. During 1860,s two boys whose ages were thirteen year became weak and lost their
gait. A French scientist named Duchenne.G told a detailed study of these two boys
which suffered from this disease. He said that this disease occurred more frequently in
male. As reading frame hypothesis shows that this protein is broken down easily.This
disease affects the males about 1 in 4000. This disease is caused due to participation of
breathing muscles,This dystrophin protein provide stress to cell membrane.
Hereditary advises are given to those people whose family background are not very well-
known. This disease is detected by chromosomal studies about 96% accuracy performed
during pregnancy.
KEYWORDS
Duchenne muscular dystrophy, recessive X-linked form, diaphragm and respiratory
muscles, mutation of dystrophy gene at locus Xp 21, adipose and connective tissue,
scoliosis, muscle biopsy, predisone.
INTRODUCTION
Duchenne muscular dystrophy [1] is a hereditary disease caused by
mutation in X-chromosomes which causes damage to muscles, inability to walk and
expiry of human body.
HISTORY
During 1860,s two boys whose ages were thirteen year became weak and lost
their gait. A French scientist named Duchenne.G told a detailed study of these two boys
which suffered from this disease. He said that this disease occurred more frequently in
male
TYPES
The types of duchenne muscular dystrophy are ,becker muscular
dystrophy ,congenital muscular dystrophy ,duchenne muscular dystrophy,emery-dreifuss
muscular dystrophy .[2] , limb-girdle muscular dystrophy,distal muscular dystrophy and
myotonic muscular dystrophy [3].
PATHOGENSIS
This disease is occurred due to change in genes[4] at 21 position of X-
chromosomes. This protein attached muscle to o network of protein which contains small
unit. The calcium enter into cell membrane which causes necrosis of adipose tissues.
MOLECULAR BASIS
As reading frame hypothesis[5] shows that this protein is broken
down easily.This disease affects the males about 1 in 4000. This disease is caused due to
participation of breathing muscles[6].This dystrophin protein provide stress to cell
membrane.
PROGNOSIS
 This disease is affected by all controlled muscles and involves
cardiac and respiratory muscles. This disease affects those persons which are average life
span of forty to fifty years. This disease is lessen by proper positioning on bed,proper diet
and by using movable chairs.
CAUSES
This disease spreads very quickly due to change in dystrophin gene.This
disease occur in those people more frequently whose history of family are not well
known.The males have 70% chance to get this disease than females.
SIGNS&SYMPTOMS
The symptoms of this disease are muscle damage, unproper
diet,frequent perigones,inability to walk, damage in any part of body,arrhythmias or
cardiomyopathy. .[7],scoliosis (curvature of spine & back) [8].,watering eyelids, infection in
gonads and frequent urination.
DIAGNOSIS
There are three ways to test this disease
Testing DNA[9] , Testing muscles [10] and Prenatal test. [11]
DNA TEST
The protein is made up of 79 axons.The testing of DNA is used to diagnosis
the axon.
MUSCLE BIOPSY
The small piece of tissue is taken and dye is applied that shows the
presence of protein.Deficiency of this protein causes this disease.
Prenatal tests
This test is performed during pregnancy to check whether the fetus is
affected or not.About 11week of pregnancy this test is performed.
TREATMENT
There are some methods to treat this disease which are physical
therapy,surgery, occupational therapy and nutrition
There is no cure for DMD.Orthopedic appliances may improve the mobility and ability to
care for yourself.
MEDICINES
The medicines used to treat this disease are predisone [12], phenytoin,
dantrium, carbatrol,tegretol,cyclosporine,mexitil and azathioprine .
PREVELANCE

COUNTRY EXTRAPOLATED POPULATION

INCIDENCE ESTIMATED
DMD IN NORTH AMERICA
USA 49,256 295,667,405³
CANADA 6,517 35,507,874³
MEXICO 19,329 124,959,594³
DMD IN CARIBBEAN
PESERTO RIO 677 3,997,960³
DMD IN SOUTH ASIA
BRAZIL 30,458 158,101,109³
COLOMBIA 7,321 42,678,775³
VENEZUELA 5,412 25,217,387³
CHILE 2,645 15,956,957³
DMD IN NORTHERN EUROPE
DENMARK 912 5,563,392³
FINLAND 888 5,674,512³
DMD IN ASIA
PAKISTAN 26,532 159,196,336³
BHARAT 177,359 1,678,089,607³
BHUTAN 463 2,385,348³
DMD IN OCEANIA
AUSTRALIA 3,912 19,567,144³
FURTHER RESEARCH
Many methods are under consideration to cure this disease.
Bone cell removal[13]
Regulation of utrophin. [14]
Bone cell removal
The stem cells are separated from muscles. To correctly administered
the drug medicines are required to inject into arteries every 3mm. Pericytes[15] are injected
into artery.
Regulation of utrophin
This hormone is present at position of 6 in chromosomes[16].The
scientist are still working on this hormone to understand the mechanism in curing this
disease.
COUNSELING
Hereditary[17] advises are given to those people whose family background
are not very well-known. This disease is detected by chromosomal studies about 96%
accuracy performed during pregnancy[18]
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