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DMD first describe in the 1860s by Guellaume Duchnne.DMD is the most common form of children
muscular dystrophy. This disease is characterized by progressive weakness and wasting of muscle groups
and hamper locomotion. The muscle weakness is relating symmetrical and begins proximally in the pelvic
girdle shoulder girdle ,and trunk.
Onset:
Usually in the four years. It generally affects only boys (with rare exception)
Prognosis:
The disease progresses until the patient is unable to walk.-By age 5 the child unable to run and jump-
• By age 7years contracture of heel cords and iliotibial bands lead to toe walking.
• by age 10,the child may be need braces for walking.
• By age 12,most patients are unable to walk or in early adolescence.90%patient wheelchair
• The n child dries from respiratory infections or cardiac failure sometimes in his 2nd /3rd decade
• Life span ranges from15-45years maximum.
Pathology:
Decrease in number of muscle fibres (functional muscle)enlargement and atrophy of fibres ,necrosis
,signs of phagocytosis , infiltration by fats cells and increase in connective tissue eventually reduced to fat
and connective tissue. Osteoporosis of the long bone is found in the later stages probably due to disuse.
Hypertrophy due t o proliferation of fat and connective tissues of certain muscle.
Diagnosis:
Clinical manifestation and family history and certain test is very important-
Clinical features:
• Progressive muscular wastin around the shoulder girdles and unable to use his hands without
mechanical assistance
• Poor balance/Drooping eye lid/Atrophy
• Scoliosis-which may interfering with respiratory function
• Inability to walk/Frequent falls/Waddling gaits
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• Calf deformation, Quadriceps, guteals. Deltoid muscle and other group are become pseudo
hypertrophic.
• Limitation of range of motion/Respiratory difficulty
• Joint contractures./Cardoimyopathy.
• Arhythms./Muscles spasms .
• Gower’s signs-when a child is asked to stand up from a crouched- on floor position he uses his
hands in a manner as if trying to climb over oneself in an attempt to stand erect.
• Others -intellectual, muscular ,behaviors, Bowell and sexual function, Cognitive impairment
vision and speech problems.
Causes:
Mutation of a gene located on the X chromosome .It is inherited is an X-linked recessive fastion.
Researchers identified gene for the protein dystrophin which when absent causes DMD. The amount of
dystrophin correlates with the severity of the diseases (i.e.-the less dystrophin present the more severe the
phenotype) Since the gene is on the X Chromosome , this disorder affects primary males and females who
are caries have milder symptoms sporadic mutations in this gene occurs frequently accounting for a third
of case. The remaining two-third of cases are inherited in a recessive pattern.
Muscular dystrophy has a gradual and progressive course. With medication and physiotherapy , the
course of the disease can be modified and delayed but not stop.
Environmental variations of the sorts that might cause genetic mutations in the foetus are a risk factor too.
Males are prone to be affected by most forms of DM.
Process of dysfunction:
Tendency to contracture
Progressive deformity
Develop planter flexion and eversion and rigit equinivarus deformity and scoliotic deformity due to trunk
muscle weakness.
Life style of a patient with Muscular Dystrophy: A Muscular Dystrophy faces many challenges of life-
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Muscular dystrophy
Muscular dystrophy is a disorder of the musculoskeletal system that is characterized by
progressive weakening of various muscle groups. This disorder has many genetic presentations
giving rise to its different types and forms. In the present times, this disorder is amongst the most
challenging hurdles that human science has ever come across.
Muscular dystrophy is not an acquired disorder but primarily a defect of inheritance. Mutations
in the genetic structure lead to disruption in the sarcolemmal structure of the muscle fibre. A
protein complex, dystrophin-glycoprotein, is responsible for binding together all the muscle
fibres in a muscle group. Genetic mutations as a result of inheritance or defective development
during embryonic stage disrupts these complexes and henceforth make the musculoskeletal
system of human body susceptible to dystrophic/atrophic changes.
MD has a gradual onset and a progressive course. With medications and Physiotherapy, the
course of the disease can be modified and delayed but not stopped.
Environmental variations of the sorts that might cause genetic mutations in the foetus are a risk
factor too. Males are prone to be affected by most forms of MD.
Besides the specific symptoms of each type, in general, there is muscular weakness of various
muscle groups in the patient. A few sites like the hips and the calves seem to develop greater
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muscle bulk when actually that is purely fatty tissue deposition. This is called
pseudohypertrophy. Clinically, the Gower´s sign is indicative of Duchenne´s MD whereby when
a child is asked to stand up from a crouched-on-floor position, he uses his hands in a manner as if
trying to climb over oneself in an attempt to stand erect.
GOWER´S SIGN
Defects of vision and difficulty in swallowing are key representation of the occulopharyngeal
type of MD. Involvement of face muscles is primarily seen in facio-scapulo-humeral type of
MD. Sensory changes are rarely seen. The involvement of heart and respiratory muscles are the
cause of fatality in few of the types of MD.
A patient with muscular dystrophy faces many challenges of life.Patient becomes dependent for
most of the activities of daily living. It is in such situations that a feeling of invalidity develops in
the minds and hearts of these patients. Depending on age groups different psychosocial
behaviour is seen amongst the patients. The lack of play amongst toddlers, lack of
companionship in young adults and family insecurity in all of them are the key features of their
psychosocial status. For the many challenges they face, the patients deserve support not
sympathy, we need to empathize and re-integrate them in the normal social functioning for their
well-being.
The main goal of physiotherapy would help the patient attain a socially functional status so that
he/she can function in the surroundings, of their own accord, bringing about a sense of
independence in the patients.
The therapeutic practices involved and their importance in the life of an MD patient are as
follows:
• Passive movement: Passive movements are a technique that involves movement of limbs
by the physiotherapist, in all ranges, in a manner so as to maintain joint and muscle
integrity. Long term immobilization in patients due to weakness of the muscles can render
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the muscle fibrotic and the joint may become stiff. To avoid the development of these co
morbidities one need to maintain the integrity of structures by passive movements.
• Active assisted movements: The MD patient has limited muscle power. Therefore, with
maximum effort, they can attain only a limited range by active contraction of their
muscle. To maintain this power, maximum amount activity upto the fatigue threshold
should be encouraged in these patients. While the patient maintains muscle force, the
physiotherapist should assist the completion of this movement in the normal
biomechanical pattern. This will maintain the joint proprioception i.e. the sense of joint
position in space.
• Stretching manoeuvres: Often again due to immobility and poor power of muscles, the
muscles shorten in length. The joints adapt a gravity assisted position and internal
muscular forces cannot work against the external gravitational force. As a result of this
joint contractures develop. To open up these joints and retain the normal muscle length,
stretching is done on the joints. A sustained long duration stretch with crepe bandages or
taping can be given initially and this can be toned down a bit in later stages to short
duration stretches with greater repetitions given manually.
• Joint mobilization: Due to imbalance of muscular forces, the joints often get displaced
from their normal anatomical position. To guide them back so that proper weight bearing
can be done on the joints without causing any harm to the associated structures, the
physiotherapist passively mobilizes the bones of each joint to bring them in place.
• Balance and Gait training: Muscular imbalances are so profound in MD that sitting and
standing balance are greatly affected in the patients. So with gradual progression from
kneeling to quadruped to high sitting to standing position, balance training should be
given. As the balance improves the patient will be able to function better by
himself/herself. With gradual degradation of power in lower extremities, the locomotion
or gait is affected. So gait training involving proper training in parallel bars progressing
from supported to unsupported walking should be done under the supervision of the
physiotherapist.
o In water a person can feel very little of his/her own weight so this makes activities
of partial weight bearing possible.
o Adding floatation devices can assist the movements while adding high pressure
water jet can help in performing mild resistance training in better muscle groups.
o Warmer water helps in maintaining good thermo-stasis in the body and keeps the
active muscle warm and hence at ease.
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• Cardiac Pacing and Breathing Exercises: As the muscles of heart and respiratory
system weaken, greater chest and cardiac congestion is seen in the patients with MD. To
avoid the deleterious effects of an insufficient cardiopulmonary system, one needs to keep
in mind a few points.
o The patient should be taught huffing and coughing to aid him in spitting out the
chest secretions.
Besides the therapy sessions, it is the duty of the physiotherapist to counsel the patient about
what his/her condition is and how he/she may expect to change in the course of the disease. A
prime part of counselling involves Genetic Counselling. The physiotherapist´s duty also
includes the prescription of orthoses and wheelchairs in conjunction with other rehabilitation
professionals.