Muscular dystrophy is often diagnosed in children aged 3 to 6 years. Early indications of the condition include trouble walking, difficulty rising from a sitting or reclining posture, and frequent falls, with weakness often affecting the shoulder and pelvic muscles as one of the earliest symptoms. Children with muscular dystrophy may have difficulties pulling up their hair or picking things up with their hands.
The diagnosis can be confirmed by laboratory tests showing reduced levels of muscle proteins or increased amounts of abnormal protein fragments. Genetic testing can also be used to identify specific types of muscular dystrophy. In some cases, an MRI scan may show characteristic changes in the muscles that help diagnose the disease.
Treatment is primarily aimed at controlling symptoms and preventing complications. Physical therapy can help increase strength and mobility of affected muscles. Some people with muscular dystrophy require mechanical ventilation to breathe because their lungs are unable to expand enough to pull air in through their breathing tubes. Others may require feeding tubes to eat or medications to control seizures.
There is no cure for muscular dystrophy. However, researchers are working on treatments based on how early the disease is detected and treated. For example, studies are exploring the use of steroids to prevent further damage to muscle tissue and tools such as artificial knees and elbows to support weakened limbs.
Children with muscular dystrophy need care that takes into account their physical and developmental needs.
Muscular dystrophy can occur at any age, however the majority of diagnosis occur in childhood. Young males are far more likely than girls to be infected with this illness. The nature and severity of symptoms determines the diagnosis of muscular dystrophy.
There are four main types of muscular dystrophy: limb-girdle, congenital, dilated, and mitochondrial. Each type is characterized by different symptoms and different levels of severity. It is important to recognize the various types of muscular dystrophy so that proper treatment may be provided.
Limb-girdle muscular dystrophy causes muscle weakness and wasting throughout the body, including the face. Limb-girdle muscles are those that cross multiple joints, such as the pecs (chest muscles), deltoids (shoulder muscles), triceps (upper arm muscles), and quadriceps (thigh muscles). People with limb-girdle muscular dystrophy often experience difficulty walking due to the weakening of their legs.
People with congenital muscular dystrophy have symptoms from birth or prematurely. They usually do not live past adolescence because their muscles become weak too early in life.
Dystroglycanopathy is a group of rare genetic disorders that cause muscle weakness and wasting.
Duchenne muscular dystrophy (DMD), which primarily affects boys, is the most prevalent muscular dystrophy among children. DMD has historically led in the loss of the ability to walk between the ages of 7 and 13 years, as well as mortality in the teen or twenties. However, recent advances in clinical care have increased life expectancy for people with DMD; thus, it is now expected that individuals will survive into their early 40s.
Currently, there is no cure for DMD; however, new treatments are being developed continuously. In addition, supportive and adaptive technologies are available to help people with DMD maintain functional use of their muscles into adulthood.
In general, an individual who inherits one copy of the DMD gene from either parent will not develop DMD. If a person receives two copies of the defective DMD gene, he or she will also develop DMD. People with DMD experience progressive muscle weakness and wasting. They may be able to sit up by themselves but cannot pull themselves out of their bed without assistance. Most patients are unable to walk even when using assistive devices such as crutches. The disease often leads to premature death due to respiratory complications.
The severity of DMD symptoms varies from patient to patient. Individuals who are carriers of the DMD mutation but do not show signs of the disease may still be able to produce some functional dystrophin proteins.
Muscular dystrophy can develop at any age, however the majority of cases are diagnosed in childhood. Young males are more prone than girls to suffer this condition. The kind and intensity of symptoms determine the prognosis for muscular dystrophy. There are four main types of the disease: Duchenne's muscular dystrophy (DMD), limb-girdle muscular dystrophy (LGD), facioscapulohumeral muscular dystrophy (FSHD) and myotonic muscular dystrophy (MMD).
People with DMD never walk, even at a very early age. They require constant care because they are vulnerable to developing pneumonia due to poor breathing control, muscle weakness and lack of exercise. Most patients die before their 30th birthday from respiratory failure or cardiac arrhythmia.
In LGD, muscle strength is reduced but not enough to cause walking difficulty. People with this type of muscular dystrophy may be able to climb stairs, but cannot support themselves on foot. They usually require a wheelchair for mobility. Life expectancy is normal, but people tend to lose movement in the arms and shoulders as they grow older.
FSHD is a rare form of muscular dystrophy characterized by progressive weakening and wasting of muscles of the face, shoulder girdle, chest and upper back.