Diagnosis • The symptoms present before age 5 years, and they often have exceedingly raised creatine kinase blood levels. • A clinical examination may be made if a boy has progressive proportional muscle weakness. • A muscle biopsy can be done to look for abnormal levels of dystrophin in the muscle. Someone with Duchenne will have an absence of dystrophin and appear to have an absence of the protection around the muscle cells. • Genetic testing on a blood sample for alteration in the DMD gene too can help establish the diagnosis of Duchenne muscular dystrophy without even carrying out a muscle biopsy. Yet, the results of genetic testing may not be conclusive of a diagnosis of DMD, and only the muscle biopsy is more accurate. • For remainder, a sequence of clinical findings, family history, blood creatine kinase concentration and muscle biopsy with dystrophin studies confirms the diagnosis. • Affected individuals can have delayed motor developments. Thus as a result of the proximal muscle weakness, most are unable to run and jump properly. Most patients are diagnosed at approximately 5 years of age, when their physical ability differs drastically from that of their companions. • . Duchenne muscular dystrophy is diagnosed when the gene for the protein dystrophin are shown to be absent or abnormal in blood tests and when a muscle biopsy (removal of a piece of muscle tissue for examination under a microscope) shows extremely low levels of dystrophin in the muscle. Fat and other tissues replace the dead muscle tissue in the late stages of Duchenne muscular dystrophy.
The symptoms of the muscular dystrophy in boys may appear as early as infancy. Commonly, the initial prominent symptom is the delay of motor milestones. The mean age for walking in boys with Duchenne muscular dystrophy is around 18 months. There is progressive muscle weakness of the legs and pelvic muscles, which is associated with a loss of muscle mass. Muscle weakness occurs more severely in the lower half of the body compared to the other parts. Calf muscles enlarged cosmetically and the enlarged muscle tissue is thereafter replaced with fat and connective tissue. Muscle contractures occur in the legs, making the muscles incompetent because the muscle fibres shorten and fibrosis occurs in connective tissue. From time to time, there may also have pain in the calves. Commonly, symptoms already appear in young boys aged 1 to 6. By age 10, the muscle strength of the boy might decline so much that braces may be required for walking, and by age 12, most boys are confined to a wheelchair. Skeletal deformities of the spine and other areas may also result due to the bone growing abnormally. Muscular weakness and skeletal deformities contribute to breathing disorders. Cardiomyopath, which literally means heart muscle disease, occurs mostly beginning in the early teens for some, and in all after the age of 18 years. Intellectual impairment may occur, but it is avoidable and does not worsen as the disorder progresses. Breathing complications and cardiomyopathy are common causes of death and sadly, few individuals with this dysfunction live beyond their 30s.
Prognosis Duchenne muscular dystrophy cause rapid worsening disability, and eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Death usually occurs by age 25, typically from lung disorders.
Possible Complications • Death • Cardiomyopathy ( abnormal heart muscle) • Congestive heart failure (rare) • Deformities (of chest and back) • Muscle weakness • Muscle tissues in the calf are replaced by fat and connective tissues, which results in enlargement of muscles • Mental impairment (varies, usually minimal) • Chest infections • Heart arrhythmias (rare) • Progressive, permanent disability o Decreased mobility and ability to care for self • Wheelchair requirement • Pneumonia or other respiratory infections • Respiratory failure and insufficiency
Duchenne muscular dystrophy is an incurable disease; however, promising vectors that may replace damaged muscle tissue are shown in recent stem-cell research. Current treatment is generally aimed to control the onset of symptoms to maximize the quality of life, which may consist of various types of physical therapy, medications, assistive devices and surgery.
Physical therapy Physical therapy can aid in maintaining muscle strength, flexibility, and function.As muscular dystrophy progresses and muscles weaken, contractures can develop in joints. Flexibility and mobility of joints are restricted when tendons shorten. Contractures are uncomfortable and may affect the joints of the body. Physical therapy is conducted with the help of physical therapists to reach maximum physical potential of young patients with Duchenne muscle dystrophy. Their aim is to: 1. provide regular range-of-motion exercises to minimize the development of contractures and deformity. 2. Minimize other secondary complications of a physical nature 3. Monitor respiratory function and advise on techniques to assist with breathing exercises and methods of clearing secretions 4. Schedule weekly to monthly sessions at a massage therapist to lessen pain present.
Medications In some cases, doctors may prescribe medications to slow the progression and manage signs and symptoms of muscular dystrophy. Corticosteroids such as prednisone (taken by mouth daily) and deflazacort increase energy and strength and defer severity of some symptoms. However, long term use of these medications can lead to many side effects, for example, stunted growth, loss of calcium from the bones, swelling in face and abdomen, slow healing wounds and high blood pressure. Doctors have also use gene therapy which is inserting a pared down version of the dystrophin gene into the muscles, thus allowing the muscles to produce dystrophin in order to relieve the weakness. However, so far, has not proved successful.
Assistive devices Orthopedic appliances may improve mobility and the ability for self-care. Braces give support for weakened muscles of your hands and lower legs and help keep muscles and tendons stretched and flexible, thus delaying the progression of contractures. Other devices, such as form-fitting removable leg braces hold the ankle in place during sleep can defer the onset of contractures. Appropriate respiratory support such as ventilator is needed when the respiratory muscles begin to collapse.
Surgery Doctors perform tendon release surgery to release the contractures that may develop and can position joints in painful ways, and also to relieve tendons of your hip and knee and on the Achilles tendon at the back of your foot.
Other treatments It will be crucial to be vaccinated for pneumonia and to keep up to date with influenza shots as respiratory infections may become a problem in later stages of muscular dystrophy.
