Duchenne muscular dystrophy (DMD) is a genetic disease that primarily affects very young males. A mutated gene causes DMD, but it also occurs occasionally in patients without any sign of an inherited genetic mutation. The disease progressively worsens, and sufferers are unable to walk by the time they get into their early teens. It poses a series threat to life but so far medical researchers have been unable to find any cure. The best that doctors can do is to provide some relief for its symptoms and extend the life of sufferers beyond what was possible in earlier years. However, people with DMD are not expected to live beyond their 40s.
DMD usually first appears in boys at the age when they should be starting to walk, but sometimes the symptoms might not be obvious until they turn five or six. A delay in the time the child starts to walk is one of the most common symptoms. Since children start walking at different ages, the fact that the baby boy is a little late in starting to walk might be of no significance. While some children start walking before their first birthday, other children start later. DMD sufferers usually began to walk at 18 months.
Even when a child with DMD starts to walk, you will quickly notice that they lack the walking abilities of healthy children. They walk with an odd gait and find it very difficult to get up and down stairs. They also find it hard to run and jump. The act of getting up from the floor often challenges these children. Sometimes they might raise themselves from the floor by "walking" their hands up their legs. Although toddlers often fall over as they develop walking skills, children who suffer from DMD fall much more often due to the weakness in their legs.
Although the first symptoms of DMD often affect walking abilities, the disease quickly develops to interfere with the normal movement of the neck and arms as the muscles in these areas weaken. Physical therapy can help slow down this deterioration, but exercise programs must strike a careful balance; too little or too much exercise both adversely affect DMD sufferers.
A link between slowness to speak and DMD could go unnoticed for a while since everyone realizes that children vary in the speed they develop verbal skills. Now and again perfectly healthy children might not start to speak until they reach two or three years old. There are also other health conditions, and even environmental factors, that might delay the child's speech development beyond what most people consider normal. If there is a history of DMD in the family, and the child has noticeable walking difficulties, this diagnosis becomes that much more probable.
Children with DMD lag behind their peers in social skills and learning abilities. They lack the same social and communications skills, for example, the ability to understand changes of facial expression. Their memory does not function as well as you would expect in a child of this age. All of these issues make life more difficult for them in family and school settings. It is conceivable that the parents might at first suspect the child has autism or some other condition that impairs their social and emotional development unless they know their family is prone to DMD.
Think of someone with breathing difficulties and the person living with asthma or a very older adult usually come to mind. DMD maybe is best known as a degenerative muscle disease, but sufferers start to experience serious respiratory problems as it progresses. This symptom of the disease usually first becomes apparent when the patient reaches their early teens and the muscles supporting the lungs have weakened. These difficulties breathing may increase to a point where they need equipment to assist them to breathe, and it could even put the patient's life in danger.
The heart damage DMD causes also poses a serious threat to the patient's life. The disease damages the heart muscles in the same way it damages the muscles supporting the lungs. It causes the heart to increase in size in a way that makes it work less effectively. The doctor succeeds in improving heart functioning with medications in certain cases, but a heart transplant might be the best solution if the medicine fails to help.
Doctors recognize DMD from the seriousness of the damages to muscles, and the associated breathing and heart problems. However, in some case histories, they discover that the gene mutation behind DMD takes a different form. If the patient experiences milder DMD symptoms and its progress are noticeably slower, they could have the variation of the disease the medical profession calls Becker muscular dystrophy (BMD). One key difference between the two varieties is that while DMD symptoms appear in early childhood, BMD might not develop until the patient enters their teens.
One of the most serious health threats linked to DMD is when the patient loses their ability to eat and digest food normally. They start to experience problems swallowing and might even come to choke on their food. While there is no way to reverse the muscle damage that causes them this discomfort, family and doctors must ensure they receive the nourishment they require, for example, through artificial feeding. They must also take every precaution against them choking.
As well as finding it hard to walk, going up and down stairs and performing other actions that most people do naturally, patients with DMD soon become fatigued from these physical exertions. As the disease progresses mobility declines until their weakness confines them fulltime to a wheelchair. This happens at the start of their teens in most cases.
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