DUCHENNE MUSCULAR DYSTROPHY

DOC I HAVE DUCHENNE MUSCULAR DYSTROPHY

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a genetic disease which causes rapid weakness and wasting of muscles.

What is the cause of Duchenne muscular dystrophy?

Duchenne muscular dystrophy is believed to occur as a result of a defective gene for dystrophin (a protein in the muscles).

In Duchenne muscular dystrophy males are more likely to develop symptoms than are women.

Inheritance is usually sex-linked and recessive. The sons of women who are carriers of the disease have a 50% chance of having the disease while the daughters have a 50% chance of being carriers.

Duchenne muscular dystrophy occurs in 0.3 per cent of male infants in the population.

What are the symptoms of Duchenne muscular dystrophy?

Symptoms may appear as early as infancy and include:

1.Fatigue
2.Muscle weakness which is worse in the legs

3.waddling gait

4.use of hands to raise self from floor
4.Difficulty in running, jumping
5.Frequent falling

6,climbing stairs difficult

7.Pseudohypertrophy of the infraspinatus, deltoids , triceps and calf muscles


8.Atrophy of muscles occurs with contractures and deformity

9.Progressive difficulty in walking with ability to walk lost by 12 years of age
10.Most patients at age 12 are confined to a wheelchair.

Signs :

A complete physical examination may show:

1.Abnormal heart muscle (cardiomyopathy)
2.Congestive heart failure
3.Deformities of the chest and back (scoliosis)
4.Enlarged calf muscles which are later replaced by fat and connective tissue (pseudohypertrophy)
5.Loss of muscle mass (wasting)
6.Muscle deformities in the heels and legs
7.Respiratory difficulty due to weakness of lung muscles

Investigations:

1.Electromyography (EMG)
2.Genetic tests
3.Muscle biopsy

What is the Treatment of Duchenne muscular dystrophy?

Treatment of Duchenne muscular dystrophy are usually symptomatic to improve the quality of life as there is no cure for the disease.

Gene therapy may be able to cure by removing the defective gene in the future.

1.Physical activity is helpful to maintain muscle strength and function.
Inactivity may worsen the muscle disease.

2.massage and electrical stimulation of muscles
2.Orthopedic appliances (such as braces and wheelchairs) may increase the ability for self help.

What is the prognosis of Duchenne muscular dystrophy?

Duchenne muscular dystrophy usually leads to rapidly worsening muscular condition.
Death can occurs by age 25 typically from respiratory conditions such as pneumonia.

What are the complications of Duchenne muscular dystrophy?

1.heart disease such as cardiopathy and heart failure
2.muscle deformities such as scoliosis
3.mental impairment which is rare
4.permanent, progressive disability
5.pneumonia or other respiratory infections
6.death from respiratory failure

What is the preventive measures of Duchenne muscular dystrophy?

Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
Genetic couseling will therefore be a great help to prevent the disease.