muscular dystrophy(spedforpehm)

7/30/2019 Muscular Dystrophy(SPEDFORPEHM)

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Muscular Dystrophy

Any of a group of progressive muscle disorders caused by a

defect in one or more genes that contro

l muscle functionand characterized by gradual irreversibl

e wasting of skeletal muscle

genetic disorder that weakens themuscles that help the body move.

Also called myodystrophy.Causes and Classificatons

Duchenne muscular dystrophy andBecker muscular dystrophy are caused

by mutations in the dystrophin gene

Limb-girdle muscular dystrophies arecaused by mutations in other genes.

Dystrophin

This protein is located primarily inskeletal and cardiac muscle

it helps stabilize and protect musclefibers

Muscle cells without enough of thisprotein become damaged as muscles

repeatedly contract and relax with use.

The damaged fibers weaken and die

over time, leading to the muscle

weakness and heart problems

characteristic of Duchenne and Becker

muscular dystrophies.

Charactheristics

The Duchenne and Becker types ofmuscular dystrophy are two related

conditions that primarily affect skeletal

muscles, which are used for movement,and heart (cardiac) muscle. These forms

of muscular dystrophy occur almost

exclusively in males.

Both the Duchenne and Becker forms ofmuscular dystrophy are associated with

a heart condition called

cardiomyopathy

Males with Duchenne musculardystrophy typically live into their

twenties, while males with Becker

muscular dystrophy can survive into

their forties or beyond.

Duchenne muscular dystrophy

muscle weakness tends to appear inearly childhood and worsen rapidly

Affected children may have delayedmotor skills, such as sitting, standing,

and walking.

usually wheelchair-dependent byadolescence

mutations that prevent the productionof any functional dystrophin tend to

cause Duchenne muscular dystrophy.


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Becker muscular dystrophy

usually milder and more varied In most cases, muscle weakness

becomes apparent later in childhood or

in adolescence and worsens at a much

slower rate.

Mutations that lead to an abnormalversion of dystrophin that retains some

function usually cause Becker muscular

dystrophy

Limb-girdle muscular dystrophy

is used to describe these disordersbecause the muscles most severely

affected are generally those of the hips

and shouldersthe limb girdle muscles.

The age of onset is usually between 10and 30

Both genders are affected equally When limb-girdle muscular dystrophy

begins in childhood the progression

appears to be faster and the disease

more disabling

When the disorder begins inadolescence or adulthood the disease is

generally not as severe and progresses

more slowly.

Diagnosis

A muscle biopsy (the removal and examof a small sample of muscle tissue)

DNA (genetic) testing Electromyography or nerve conduction

tests (which use electrodes to test

muscle and/or nerve function)

Treatments and drugs

MedicationsCorticosteroids, such as prednisone,

may help improve muscle strength and

delay the progression of certain typesof muscular dystrophy. But prolonged

use of these types of drugs can weaken

bones and increase fracture risk.

TherapyRange-of-motion exercises. One goal

of physical therapy is to provide regular

range-of-motion exercises to keep

joints as flexible as possible.

Mobility aids. Braces can provide support

for weakened muscles and help keep

muscles and tendons stretched and flexible,

slowing the progression of contractures.

Other devices such as canes, walkers and

wheelchairs can help maintain mobility and

independence.

Breathing assistance. As respiratory

muscles weaken, a sleep apnea device may

help improve oxygen delivery during the

night. Some people with severe muscular

dystrophy may need to rely on a ventilator

a machine that forces air in and out of

their lungs.

Surgical and other proceduresSurgical remedies are an option for

several of the problems common to

muscular dystrophy, such as:

Contractures. Tendon surgery can loosen

joints drawn inward by contractures.


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Scoliosis. Surgery may also be needed to

correct a sideways curvature of the spine

that can make breathing more difficult.

Heart problems. Some people who haveheart problems related to muscular

dystrophy may be helped by the insertion of

a pacemaker, which prompts the heart to

beat more regularly.

Prognosis

Becker muscular dystrophy(BMD) is aless severe variant of Duchenne

muscular dystrophy and is caused by

the production of a truncated, but

partially functional form

of dystrophin.Survival is usually into old

age. Affects only boys (with extremely

rare exceptions)

Duchenne muscular dystrophy(DMD) isthe most common childhood form of

muscular dystrophy, it generally affects

only boys (with extremely rare

exceptions), becoming clinically evidentwhen a child begins walking. By age 10,

the child may need braces for walking

and by age 12, most patients are

confined to a wheelchair. Patients

usually die around age 25, but this

depends from person to person

Limb-girdle muscular dystrophyis alsocalled LGMD. Affects both boys and

girls. LGMDs all show a similardistribution of muscle weakness,

affecting both upper arms and legs.

Many forms of LGMD have been

identified, showing different patterns of

inheritance (autosomal recessive vs.

autosomal dominant). In an autosomal

recessive pattern of inheritance, an

individual receives two copies of the

defective gene, one from each parent.

The recessive LGMDs are more frequent

than the dominant forms, and usually

have childhood or teenage onset. The

dominant LGMDs usually show adult

onset. Some of the recessive forms

have been associated with defects in

proteins that make up the dystrophin-

glycoprotein complex.Though a person

normally leads a normal life with some

assistance, in some extreme cases,

death from LGMD occurs due to

cardiopulmonary complications

Educational Implications

In Primary School the mainconsiderations are around mobility and

independence.

In PE pupils should be encouraged toaccess as many physical activities as

possible to use the full range of

movements for as long as possible.

Physiotherapists can provide help andsupport for PE lessons.

Pupils will tire easily - monitor fatigue /look for patterns in school week.

Because of increasing weakness in theshoulder girdle muscles, the child

should not be pulled up by the hands or

from under the arms.

Use of ICT early on to establish skillsbefore they are required.

Extra time / scribe during tests /examinations

muscular dystrophy(spedforpehm)

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