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CHILDREN WITH DISABILITY: MUSCULAR DYSTROPHY

1. What is Muscular dystrophy?

Muscle weakness is the main symptom of muscular dystrophy. In it the muscles get weaker day by day, and it will affect the daily function of an individual. The different common type of muscular dystrophy are Duchenne Muscular Dystrophy(DMD), Becker Muscular Dystrophy(BMD), Limp Girdle Muscular Dystrophy(LGMD),  Facioscapulo Humeral Dystrophy(FSHD), Congenital Muscular Dystrophy(CMD), Myotonic Muscular Dystrophy, Occulopharyngeal Muscular Dystrophy, Distal Muscular Dystrophy, Emery Dreiufuss Muscular Dystrophy.

2. Identify the problem

The different problems faced by the person who suffer from muscular dystrophy are trouble in walking, breathing difficulty, swallowing problems, lung and heart weakness, walking on your toes, frequent falls, trouble getting up from the floor, poor motor control, vision and speech problem, intellectual problems etc. 

3. Prevalence

Duchenne Muscular Dystrophy is the second most prevalent genetic syndrome (5.474 %). In the case of DMD patients, family history is very important in determine the occurrence of this disease. In about 33.33 % of the cases, a family history of the disease, either paternal or maternal lineage, was present. 

4. Institutional challenges

The main institutional challenges faced by the person of muscular dystrophy are, if that person is going to a schools, college or office etc. there will be a stair he/she will not be able to get on that because the person suffering from this disease is always using a wheelchair and cannot do anything without the help of others. 

5. Individual Challenges

The main individual challenges are the person will be always dependent to his family; there should always a supporter to motivate him. He/she must accept the reality and have the courage to go through the extreme physical and emotional pain. By providing proper mental awareness and promoting their positive mental health we can make them self-reliant.

6. Diagnosis and  Treatment

  • Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In a person who hasn't had a traumatic injury, high blood levels of CK suggest a muscle disease.

  • Genetic testing. Blood samples can be examined for mutations in some of the genes that cause types of muscular dystrophy.

  • Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis of the tissue sample can distinguish muscular dystrophies from other muscle diseases.

  • Heart-monitoring tests (electrocardiography and echocardiogram). These tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy.

  • Lung-monitoring tests. These tests are used to check lung function.

  • Electromyography. An electrode needle is inserted into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.

Although there's no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength. Trials of new therapies are ongoing.

People with muscular dystrophy should be monitored throughout their lives. Their care team should include a neurologist with expertise in neuromuscular diseases, a physical medicine and rehabilitation specialist, and physical and occupational therapists.

Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:

  • Range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. Range-of-motion exercises can help to keep joints as flexible as possible.

  • Exercise. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful. But it's important to talk to your doctor first because some types of exercise might be harmful.

  • Braces. Braces can help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Braces can also aid mobility and function by providing support for weakened muscles.

  • Mobility aids. Canes, walkers and wheelchairs can help maintain mobility and independence.

  • Breathing assistance. As respiratory muscles weaken, a sleep apnea device might help improve oxygen delivery during the night. Some people with severe muscular dystrophy need to use a machine that forces air in and out of their lungs

7. Our Role

We have to focus on patient and his family member’s wellbeing, and have to make them aware about the situation and make them to have the courage to accept the reality and perform the work accordingly. By providing proper awareness class and experience sharing we can motivate them. Counselling program to the patient and the family help them to motivate and it lead to positive response. Awareness class to the patents and the patients, counselling programs for the patient and the family, financial support, can conduct programs to encourage their skills, can conduct small games which help to increase their motor activity skills.

8. References

SCHEME OF ASSISTANCE TO DISABLED PERSONS FOR PURCHASE/FITTING OF AIDS/APPLIANCES (ADIP SCHEME)- Ministry of Social Justice and empowerment.
It has been the constant endeavour of the Government to provide the disabled persons with aids/appliance at minimum costs. The requirement for providing of aids/appliances, which are essential for the social, economic and vocational rehabilitation of the disabled persons, has come into sharp focus, particularly after the enactment of the Persons with Disabilities (Equal Opportunities, Protection of Rights and Full Participation) Act, 1995, which came into force in 1996. 

The main objective of the Scheme is to assist the needy disabled persons in procuring durable, sophisticated and scientifically manufactured, modern, standard aids and appliances that can promote their physical, social and psychological rehabilitation, by reducing the effects of disabilities and enhance their economic potential. The aids and appliances supplied under the Scheme must be ISI.

Muscular Dystrophy Association India

The Muscular Dystrophy Association India is one of the very few of its kind in India. Since its first breath on the 5th of February 2000, the association has itself programmed with the duty to help those afflicted by the disease – MUSCULAR DYSTROPHY

Basic objectives include:

  • Psychological support to Patients and Parents

  • Dissemination of information on the disease

  • Promote interaction and communication amongst Doctors, Patients,

  • Parents and Scientists

  • Promote Research and Development for these ‘orphan’ disease

  • Create a National task Force for Public awareness

  • Interaction with Government bodies and recommendations for important

  • healthcare reforms

  • Rehabilitation measures

9. Bibliography

Dr.Alok Sharma, MS, MCh, Dr.Hemangi sane. (n.d.). patient and parent guidebook on Muscular Dystrophy. mumbai: NeuroGen Brain and Spine Institute.

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Prajaahita Foundation 18/937 Q1, First Floor Akkai Tower Near Tali Temple, Chalappuram Kozhikode-673002

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