Muscular Dystrophy - Symptoms

All forms of MD have one characteristic in common—muscular weakness. Other symptoms differ, however, depending on the type of MD involved.

DMD Symptoms

The first symptoms of DMD appear during preschool years. The disorder affects the legs first. A boy has trouble walking and maintaining balance. In most cases, he begins walking three to six months later than average. As his calf muscles begin to weaken, he may change the way he walks. He places his legs farther apart in order to maintain balance. Walking this way produces a waddling effect that is characteristic of DMD.

Contractures usually begin at about the age of five or six. They affect the calf muscles most severely, pulling the foot down and back. This forces a boy to walk on his tiptoes. Balance becomes more of a problem. As a result, falls and broken bones become common at this age. By the age of nine or ten, a boy with DMD might not be able to climb stairs or stand by himself. Most DMD patients have to use a wheelchair by the age of twelve.

Muscles in other parts of the body are also weakened. When muscles in the upper body are affected, scoliosis (see scoliosis entry), or curvature of the spine, may result. The most serious problem, however, affects the muscles of the diaphragm. The diaphragm provides the in-and-out force that allows a person to breathe and to cough. As the diaphragm weakens, breathing becomes more difficult and patients will have less energy and stamina. They also become more subject to infection because they cannot cough up infectious agents that get into their lungs. Young men with DMD can live into their twenties provided they have mechanical aids to help with their breathing and good respiratory (breathing system) hygiene.

About a third of the boys with DMD also have learning disorders. These disorders can include problems with learning by ear and trouble paying attention to some tasks. Specialized educational problems can help compensate for these disorders.

BMD Symptoms

The symptoms of BMD usually appear in late childhood to early adulthood. They are similar to those of DMD, but they are usually less severe. They may also develop at a different rate and in a different pattern. For example, young men with BMD can often walk on their own into their twenties or early thirties. Scoliosis may also develop, but it is less severe and develops more slowly. One symptom that is more serious in BMD than DMD involves heart problems. These problems include irregular heartbeats and congestive heart failure. Symptoms related to heart problems include fatigue, shortness of breath, chest pain, and dizziness. Respiratory problems may also develop, requiring the use of a mechanical device to help the patient breathe.

EDMD Symptoms

EDMD usually begins in early childhood. The first symptom is likely to be contractures, which is a permanent shortening of a muscle. Muscle weakness then appears in the shoulders, upper arms, and calves. Most men with EDMD survive into middle age. As with BMD, heart problems may develop and can cause death.

LGMD Symptoms

At least two forms of LGMD occur. One develops during childhood and the other in the teens or twenties. The major symptom is weakening of muscles in the center of the body. Contractures may occur, and most people lose the ability to walk about twenty years after their disorder is diagnosed. In some people, respiratory problems may require the use of a mechanical device to assist with breathing.

FSH Symptoms

FSH varies in its severity and age of onset. Symptoms can begin anywhere from childhood to the early twenties. Symptoms tend to be more severe when the disorder appears earlier. The condition mostly affects muscles of the face, shoulders, and upper arms, although hips and legs may also be affected. Children with FSH often develop partial or complete deafness.

Symptoms of Myotonic Dystrophy

Symptoms of myotonic dystrophy include facial weakness, a slack (loose) jaw, drooping eyelids, and muscle wasting in the forearms and calves. A person with this dystrophy has difficulty letting go of an object, especially if it's cold. Myotonic dystrophy affects heart muscles, causing irregular heartbeats, and the muscles of the digestive system, leading to digestion problems and constipation.

Myotonic dystrophy can also affect other body systems. It can cause cataracts (see cataracts entry), destruction of the retina, mental retardation (see mental retardation entry), skin disorders (see skin disorders entry), wasting of the testicles, sleep problems (see insomnia entry), and diabetes-like problems (see diabetes mellitus entry). Most people with this type of dystrophy are severely disabled within twenty years of first diagnosis. They usually do not require a wheelchair, however.

Symptoms of OPMD

OPMD usually begins when a person has reached his or her thirties or forties. The disorder affects muscles controlling the eyes and throat. Symptoms include drooping eyelids and difficulty swallowing. Muscle weakness later spreads to the face, neck, and sometimes the upper limbs. Difficulty in swallowing can result in problems of the upper respiratory system. Among the most serious of these problems is pneumonia (see pneumonia entry).

Symptoms of DD

DD usually begins in the twenties or thirties. It first appears as a weakness in the hands, forearms, and lower legs. One of the first symptoms may be difficulty with fine movements, such as typing or fastening buttons. Symptoms usually progress slowly. The disorder seldom affects a person's normal life span.

Symptoms of CMD

CMD is marked by severe muscle weakness from birth. Infants with the disorder cannot control their muscles and tend to flop around. Nonetheless, children with CMD may learn to walk, with or without a supporting device, such as crutches. Many live into young adulthood and even beyond. Fukuyama CMD is a far more serious disorder, however. Children with this condition seldom learn to walk and suffer severe mental retardation. They generally die in childhood.