Muscular Dystrophy


The muscular dystrophies (MD) are a group of X-linked genetic disorder characterized by progressive weakness and degeneration of the skeletal muscles that control movement.

Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later.

The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

The genes for Duchenne’s and Becker’s MD are X-linked recessives – that is, they generally affect only boys but are carried and passed on by women.


The most common and severe type is Duchenne’s muscular dystrophy (MD), in which a genetic defect leads to the formation of an abnormal type of muscle protein called dystrophin. Dystrophin is a protein involved in maintaining the integrity of muscle This primarily affects boys. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children.

There are other types of dystrophies also, which are as follows:

Becker muscular dystrophy (BMD)
Emery-Dreifuss muscular dystrophy
Facioscapulohumeral muscular dystrophy
Limb-Girdle muscular dystrophy
Myotonic muscular dystrophy
Oculopharyngeal muscular dystrophy

Parents often first begin to suspect that a child has muscular dystrophy when they are about 3 to 6 years old and they notice that their child.
is frequently falling down
has difficulty getting up when he is sitting or lying down
has difficulty climbing stairs
had a delay in walking on his own
has enlarged calf muscles (pseudo hypertrophy)
is walking on his toes in a kind of ‘waddle’
walks with his shoulders pushed back (lordosis)
gets easily tired during or after routine physical activities

Symptoms begin to show in pre-school boys.
First, the legs are affected, causing walking difficulties and balance problems.
As the disease progresses, the calves begin to swell with fibrous tissue rather than with muscle, and feel firm and rubbery. For this reason, DMD is also known as pseudohypertrophic muscular dystrophy.
By age five or six, the child will have contractures (permanent muscle tightening), mostly in the calf muscles.
This tightening pulls the foot down and back, so the child must walk on tip-toes.
By age nine or ten, it becomes difficult to climb stairs or stand without help.
By age 12, most boys use a wheelchair.
Scoliosis (a side-to-side spine curvature) and (a front-to-back curvature) often appear at this time.
DMD also causes diaphragm weakness, so it is difficult to breathe and cough. This affects the child’s energy level and increases lung infections.

The list of diagnostic tests mentioned in various sources as used in the diagnosis of Muscular Dystrophy includes:

Muscle biopsy

There are things that teens with MD can do to help their muscles. Certain exercises and physical therapy can help:

To avoid contractures.
A stiffening of the muscles near the joints that can make it harder to move and can lock the joints in painful positions.
Often, teens are fitted with special braces to ensure flexible joints and tendons (the strong, rubber band-like tissues that attach muscles to bones).
Because we rely on certain muscles to breathe, some teens with MD need respiratory aids, such as a ventilator, to help them breathe.
Teens with MD also might need to be treated for problems like scoliosis, which can be caused by weakened muscles or muscles that are contracting or pulling too tightly.
With the help of a ventilator, patients with DMD often live into their twenties and beyond.
About one third of DMD patients have some learning disabilities that require individualized educational plans.

There is currently no way to prevent muscular dystrophy if you have inherited the genes responsible for these disorders. However, accurate genetic tests are now available for the muscular dystrophies for which the mutated gene has been identified. These can be useful for family planning purposes for those with a family history of this disease. If you have been diagnosed with a form of muscular dystrophy, good nutrition is an important part of your general health.

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