Symptoms of muscular dystrophy

uscular dystrophy

The symptoms of muscular dystrophy (MD) and their severity will vary from person to person. They will depend on:

* the type of MD that you have, and
* when your symptoms first appeared.

Some of the more common symptoms for some types of MD are explained below. See the useful links section for more information about these and other types of MD.
Duchenne muscular dystrophy

Your child will first start to show signs of Duchenne MD between 1-3 years of age. The muscles around the pelvis and thighs tend to be affected first. They often appear bulkier than normal even though there is progressive weakening. Your child may:

* have difficulty walking,
* have difficulty standing up,
* be unable to climb the stairs without support, and
* have learning, or behavioural, difficulties.

Children with Duchenne MD may need a wheelchair by 10 years of age. They can also develop scoliosis, which is where their spine begins to curve sideways. This can lead to one shoulder, or one hip, being higher than the other.

By the mid-teens, some people with Duchenne MD will develop dilated cardiomyopathy. This is where the condition affects your heart muscles, causing the chambers of the heart to become enlarged and the heart walls to become thinner.

By late teens, or early twenties, Duchenne MD can begin to cause respiratory (breathing) problems. The condition can affect your intercostal muscles (the muscle tissue between your ribs) and your diaphragm (the main muscle between the chest and the abdomen that you use during breathing).

Once the heart and respiratory muscles are damaged, Duchenne MD becomes life-threatening. In most cases, someone with Duchenne MD will die from cardiac or respiratory failure before they are 30 years of age.
Becker muscular dystrophy

The symptoms of Becker MD are similar to those of Duchenne muscular dystrophy. However, they are milder and do not usually appear until a person is 10 or 11 years of age, or older. If your child has Becker MD, they may:

* be late learning to walk,
* have muscle cramps when exercising (a painful spasm in the muscle), and
* struggle with sport at school.

In their teenage years, and throughout their twenties, people with Becker MD may have difficulty running, walking quickly, and climbing stairs. As they get older, they may find it difficult to lift objects above waist height and, by around 40 or 50 years of age, they may need to use a wheelchair.

If you have Becker MD, you are also at risk of developing dilated cardiomyopathy and respiratory problems. However, Becker MD progresses at a slower rate than Duchenne MD, and those with the condition usually live a normal lifespan.
Myotonic muscular dystrophy

As with other types of muscular dystrophy, myotonic MD involves progressive muscle weakness and wasting. However, it is the smaller muscles, such as those in your face, jaw, neck, and hands that are affected, rather than the larger muscle groups in the legs.

Symptoms can include:

* myotonia (muscle stiffness),
* cataracts (cloudy patches in the lens inside your eye),
* hormonal problems,
* hypersomnolence (excessive sleeping or sleepiness), and
* behavioural problems in children.

Myotonic MD can also cause cardiac conduction abnormalities. Your cardiac conduction system generates the electrical impulses that stimulate your heart to pump. Abnormalities can cause slow and irregular heart beats (cardiac arrhythmia). Serious problems can develop in about 60-70 per cent of people who have these abnormalities. In some cases, it can cause sudden death.

Myotonic MD can appear at any time from between birth to old age, and it affects both males and females equally. The rate of deterioration is often very slow, with little change over a long period of time. You may never experience significant disability, although your heart rate will need to be monitored for abnormalities.
Limb-girdle muscular dystrophy

The symptoms of limb-girdle MD often begin during late childhood or early adulthood. There are about 15 different varieties that affect both sexes equally.

Limb-girdle MD causes weakness in the big muscle groups in your arms and legs. It usually starts with the hip girdle and progresses to the shoulder girdle (‘girdle’ means the bones that encircle this area).

If you have limb-girdle MD, you may experience:

* muscle weakness in your hips, thighs, and arms,
* loss of muscle mass in the affected areas,
* back pain, and
* heart palpitations or cardiac arrhythmias (irregular heart beats).

The muscle weakness will create problems such as:

* difficulty getting out of a low seat,
* difficulty lifting objects, and
* difficulty running.

Within 20-30 years, limb-girdle MD can progress to a level of fairly severe disability. However, the variations within this type of condition mean that your rate of progression could be better, or worse, than this.
Facioscapulohumeral muscular dystrophy

Facioscapulohumeral MD can affect both males and females. It tends to affect men slightly more than women, although the reason for this is unclear. The condition usually develops between 10 and 40 years of age and progresses slowly.

Symptoms in your child may include:

* they sleep with their eyes slightly open,
* they cannot squeeze their eyes tightly shut, and/or
* they cannot purse their lips (for example to blow up balloons).

Teenagers or adults may have aches in their shoulders, rounded shoulders, or thin upper arms. As the condition progresses, it usually affects:

* the muscles in your face (facio),
* the muscles in your shoulders (scapula),
* the muscles in your upper arms (humeral), and
* the muscles of your upper back.

In around 50 per cent of people with facioscapulahumeral MD, their leg muscles will also be affected. Between 10-20 per cent of people will require a wheelchair.

Facioscapulahumeral MD can develop unevenly, so that the muscles on one side of your body are affected more than the other. Some people may not even be aware that they have the condition until they reach old age. The slow progression means that it does not usually shorten life expectancy.
Oculopharyngeal muscular dystrophy

In oculopharyngeal MD, symptoms are not usually apparent until a person is around 50 or 60 years of age. However, the abnormal gene that causes the condition will have been present since birth. It affects the muscles in your eyes (ocular) and your throat (pharyngeal).

Symptoms of oculopharyngeal MD can include:

* ptosis (droopy eyelids),
* dysphagia (difficulty swallowing),
* progressive restriction of eye movement as the eye muscles are affected, and
* limb weakness around the shoulders and hips.

As your eyelids droop, they can cover your eyes and impair your vision. It is also possible to develop diplopia (double vision). This occurs if your eye muscles are affected unevenly and your eyes start to look in slightly different directions.

The dysphagia can eventually make it hard to swallow both solid foods and liquids, and even small amounts of saliva. However, with treatment to manage the symptoms, a person’s life expectancy is not usually altered.