The terms "arthritis" and "rheumatic disease" refer to more than 100 diseases that cause

inflammation, pain and limited joint mobility throughout the body.

By 2020, it is estimated that 59. million !mericans "1#.2$% &ill ha'e arthritis.
(stimated total costs of arthritis "medical care and lost producti'ity% range from
)*5 billion to )#2. billion per year.
!rthritis is essentially a disease &here beneficial process has gone a&ry+the
inflammatory system that normally acts to clear infected areas turns on the body,s o&n
tissue. (-cessi'e inflammation in the joints produces the s&elling and pain that
characteri.e arthritis. The root causes of arthritis are un/no&n, although some studies
suggest it can be triggered by certain infections. 0rimarily a condition of aging, arthritis
usually appears in middle age, but it is also seen in children and younger adults.
Treatment typically consists of using aspirin and other analgesics, drugs that modify the
immune system, and in e-treme cases, surgery of affected joints.
http122&&&.sanfordburnham.org2research2yourhealth20ages2!rthritis.asp-
3uscular dystrophy is not simply one disease but perhaps as many as 40, each
&ith a distinct genetic defect.
The most &idely /no&n forms of muscular dystrophy affect children, but others appear
relati'ely late in life, including middle age. !ccording to 0rofessor ('a (ng'all , these
late5onset forms are li/ely to be misdiagnosed as simple aging or loss of athleticism.
Duchenne muscular dystrophy
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Definition
6uchenne muscular dystrophy is an inherited disorder that in'ol'es muscle &ea/ness,
&hich 7uic/ly gets &orse.
Alternative Names
0seudohypertrophic muscular dystrophy8 3uscular dystrophy 5 6uchenne type
Causes, incidence, and risk factors
6uchenne muscular dystrophy is a form of muscular dystrophy that &orsens 7uic/ly.
9ther muscular dystrophies "including Bec/er,s muscular dystrophy% get &orse much
more slo&ly.
6uchenne muscular dystrophy is caused by a defecti'e gene for dystrophin "a protein in
the muscles%. :o&e'er, it often occurs in people &ithout a /no&n family history of the
condition.
Because of the &ay the disease is inherited, boys are affected, not girls. The sons of
females &ho are carriers of the disease "&omen &ith a defecti'e gene but no symptoms
themsel'es% each ha'e a 50$ chance of ha'ing the disease. The daughters each ha'e a
50$ chance of being carriers.
6uchenne muscular dystrophy occurs in about 1 out of e'ery 4,*00 male infants. Because
this is an inherited disorder, ris/s include a family history of 6uchenne muscular
dystrophy.
Symptoms
;ymptoms usually appear before age * and may appear as early as infancy. They may
include1
<atigue
=earning difficulties "the >? can be belo& @5%
1 >ntellectual disability "possible, but does not get &orse o'er time%
2 3uscle &ea/ness
1 Begins in the legs and pel'is, but also occurs less se'erely in the arms, nec/, and
other areas of the body
2 6ifficulty &ith motor s/ills "running, hopping, jumping%
4 <re7uent falls
Trouble getting up from a lying position or climbing stairs
5 Aea/ness 7uic/ly gets &orse
0rogressi'e difficulty &al/ing
* !bility to &al/ may be lost by age 12, and the child &ill ha'e to use a &heelchair
@ Breathing difficulties and heart disease usually start by age 20
Signs and tests
! complete ner'ous system "neurological%, heart, lung, and muscle e-am may sho&1
!bnormal heart muscle "cardiomyopathy%
Bongesti'e heart failure or irregular heart rhythm "arrhythmias% 55 rare
6eformities of the chest and bac/ "scoliosis%
(nlarged muscles of the cal'es, buttoc/s, and shoulders "around age or 5%. These
muscles are e'entually replaced by fat and connecti'e tissue "pseudohypertrophy%.
=oss of muscle mass "&asting%
3uscle contractures in the heels, legs
3uscle deformities
Cespiratory disorders, including pneumonia and poor s&allo&ing, &ith food or fluid
passing into the lungs "in late stages of the disease%
Tests may include1
4 (lectromyography "(3D%
Denetic tests
5 3uscle biopsy
* ;erum B0E
Treatment
There is no /no&n cure for 6uchenne muscular dystrophy. Treatment aims to control
symptoms to impro'e 7uality of life.
;teroid drugs can slo& the loss of muscle strength. They may be started &hen the child is
diagnosed or &hen muscle strength begins to decline.
9ther treatments include1
@ !lbuteral55a drug used for people &ith asthma
# !mino acids
9 Barnitine
10 Boen.yme ?10
11 Breatine
12 <ish oil
14 Dreen tea e-tracts
1 Fitamin (
:o&e'er, the effects of these treatments ha'e not been pro'en. ;tem cells and gene
therapy may be used in the future.
!cti'ity is encouraged. >nacti'ity "such as bedrest% can ma/e the muscle disease &orse.
0hysical therapy may be helpful to maintain muscle strength and function. ;peech
therapy is often needed.
9ther treatments may include1
15 !ssisted 'entilation "used during the day or night%
1* 6rugs to help heart function, such as angiotensin5con'erting5en.yme inhibitors, beta5
bloc/ers, and diuretics
1@ 9rthopedic appliances "such as braces and &heelchairs% to impro'e mobility
1# 0roton pump inhibitors "for people &ith gastroesophageal reflu-%
;e'eral ne& treatments are being studied in trials.
Support roups
Gou can ease the stress of illness by joining a support group &here members share
common e-periences and problems. ;ee muscular dystrophy 5 support group. The
3uscular 6ystrophy !ssociation is an e-cellent source of information on this disease.
E!pectations "prognosis#
6uchenne muscular dystrophy leads to 7uic/ly &orsening disability. 6eath usually occurs
by age 25, typically from lung disorders.
Complications
19 Bardiomyopathy
20 Bongesti'e heart failure "rare%
21 6eformities
22 :eart arrhythmias "rare%
24 3ental impairment "'aries, usually minimal%
2 0ermanent, progressi'e disability
1 6ecreased mobility
2 6ecreased ability to care for self
25 0neumonia or other respiratory infections
2* Cespiratory failure
Calling your health care provider
Ball your health care pro'ider if1
Gour child has symptoms of 6uchenne muscular dystrophy
;ymptoms &orsen, or ne& symptoms de'elop, particularly fe'er &ith cough or breathing
difficulties
$revention
Denetic counseling is ad'ised if there is a family history of the disorder. 6uchenne
muscular dystrophy can be detected &ith about 95$ accuracy by genetic studies
performed during pregnancy.
H5lin/ed recessi'e genetic defects 5
ho& boys are affected
H5lin/ed recessi'e genetic defects 5
ho& girls are affected
H5lin/ed recessi'e genetic defects
%eferences
Eliegman C3, Behrman C(, Ienson :B, ;tanton B<. 3uscular dystrophies. >n1
Eliegman C3, Behrman C(, Ienson :B, ;tanton B<. Nelson Textbook of Pediatrics. 1#th
ed. 0hiladelphia, 0a1;aunders (lse'ier8 200@1chap *0#.
&ersion 'nfo
2@ =ast Ce'ie&ed on 0220122012
2# Jeil E. Eaneshiro, 36, 3:!, Blinical !ssistant 0rofessor of 0ediatrics, Kni'ersity
of Aashington ;chool of 3edicine8 and Benjamin ;ec/ler, 36, 6iagnostic Cadiologist,
0ough/eepsie, JG, and 0resident of Bharley,s <und8 and =uc Iasmin, 36, 0h6,
6epartment of Jeurosurgery at Bedars5;inai 3edical Benter, =os !ngeles, and
6epartment of !natomy at KB;<, ;an <rancisco, B!. Ce'ie& pro'ided by Feri3ed
:ealthcare Jet&or/. !lso re'ie&ed by 6a'id Lie'e, 36, 3:!, 3edical 6irector,
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This page &as last updated1 ;eptember 1#, 2014
;ource1 6uchenne muscular dystrophy N Kni'ersity of 3aryland 3edical Benter
http122umm.edu2health2medical2ency2articles2duchenne5muscular5
dystrophyOi-..2gH-te9ni
Kni'ersity of 3aryland 3edical Benter
<ollo& us1 PK33B on T&itter N 3edBenter on <aceboo/
http122umm.edu2health2medical2ency2articles2duchenne5muscular5dystrophy
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https122&&&.jaaos.org2content21022214#.abstract
1 2002 by the !merican !cademy of 9rthopaedic ;urgeons
6uchenne 3uscular 6ystrophy
1 3ichael ;ussman, 36
Q!uthor !ffiliations
6r. ;ussman is ;taff 9rthopedic ;urgeon and <ormer Bhief of ;taff, ;hriners :ospitals
for Bhildren, 0ortland, 9C.
2 Ceprint re7uests1 6r. ;ussman, ;hriners :ospitals for Bhildren, 4101 ;A ;am
Iac/son 0ar/ Coad, 0ortland, 9C 9@201.
!bstract
6uchenne muscular dystrophy is an H5lin/ed disease of muscle caused by an absence of
the protein dystrophin. !ffected boys begin manifesting signs of disease early in life,
cease &al/ing at the beginning of the second decade, and usually die by age 20 years.
Kntil treatment of the basic genetic defect is a'ailable, medical, surgical, and
rehabilitati'e approaches can be used to maintain patient function and comfort.
Borticosteroids, including prednisone and a related compound, defla.acort, ha'e recently
been sho&n to mar/edly delay the loss of muscle strength and function in boys &ith
6uchenne muscular dystrophy. ;urgical release of lo&er e-tremity contractures may
benefit some patients. !ppro-imately 90$ of boys &ith 6uchenne muscular dystrophy
&ill de'elop se'ere scoliosis, &hich is not amenable to control by nonsurgical means
such as bracing or adapti'e seating. The most effecti'e treatment for se'ere scoliosis is
pre'ention by inter'ening &ith early spinal fusion utili.ing segmental instrumentation as
soon as cur'es are ascertained and before the onset of se'ere pulmonary or cardiac
dysfunction.
Lhang ?, Bethmann B, Aorth J<, et al. Jesprin51 and 52 are in'ol'ed in the
pathogenesis of (mery 6reifuss muscular dystrophy and are critical for nuclear en'elope
integrity. Hum Mol Genet. 6ec 1 200@81*"24%12#1*544. R3edlineS.
Dueneau =, Bertrand !T, Iais I0, ;alih 3!, ;toj/o'ic T, Aehnert 3. 3utations of the
<:=1 gene cause (mery56reifuss muscular dystrophy. Am J Hum Genet. ;ep
20098#5"4%144#554. R3edlineS.
=iang AB, 3itsuhashi :, Eedu/a (, Jona/a >, Joguchi ;, Jishino >. T3(34
mutations in (mery56reifuss muscular dystrophy5related myopathy. Ann Neurol. Iun
20118*9"*%11005514. R3edlineS.
Benedetti ;, Bertini (, >annaccone ;, et al. 6ominant =3J! mutations can cause
combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry.
Iul 20058@*"@%11019521. R3edlineS.R<ull Te-tS.
Bonne D, Gaou CB, Beroud B, et al. 10#th (J3B >nternational Aor/shop, 4rd Aor/shop
of the 3G95B=K;T(C project1 (KC93(J, @th >nternational (mery56reifuss 3uscular
6ystrophy "(636% Aor/shop, 14515 ;eptember 2002, Jaarden, The Jetherlands.
Neuromuscul Disord. !ug 2004814"*%150#515.R3edlineS.