Muscular dystrophy is a genetic condition that causes progressive muscle weakness and wasting. Early recognition of symptoms is important for treatment and intervention. Symptoms include muscle weakness, fatigue, difficulty walking, and breathing problems. It is most commonly seen in boys and can be diagnosed through blood and genetic testing. Treatment can improve quality of life and increase life span.
There are many different forms of muscular dystrophy, a genetic condition characterized by progressive muscle weakness and eventual muscle wasting. Recognizing the symptoms of muscular dystrophy can help people identify the condition in its early stages, which may allow them more opportunities for treatment and intervention. Especially in families with a history of the disease, it is important to heed early warning signs and consider genetic counseling to discuss the implications of the family history.
In many patients with muscular dystrophy, early childhood development proceeds normally. However, as your child begins to sway, signs of muscle weakness begin to appear such as increased fatigue, difficulty sitting up, difficulty walking, swaying, and difficulty standing. The patient may also experience signs of muscular dystrophy such as frequent falls, difficulty negotiating grade or terrain changes, and gait abnormalities such as walking on tiptoes.
As muscular dystrophy progresses, the patient may develop enlarged muscles, drooping eyelids and face, and difficulty breathing. In some patients, symptoms of muscular dystrophy may not appear until adolescence or adulthood, and the form of muscular dystrophy involved is usually mild. Other patients experience symptom onset at a very early age in infancy or early childhood. Over time, the patient may lose the ability to walk and experience severe joint impairment caused by contractures (or shortening) in the muscles surrounding the joints, leading to decreased range of motion for the patient.
This condition is most commonly seen in boys, because it is an X-linked trait. X-linked traits occur in boys because they inherit one copy of a faulty gene on their X chromosome, and the Y chromosome lacks the genetic material to balance out the faulty gene. Women can carry muscular dystrophy but often do not develop the condition because they need two defective X chromosomes. Some women develop mild symptoms of muscular dystrophy when they are carriers, depending on the form they carry.
If symptoms of muscular dystrophy are identified in a child, a doctor may use a blood creatine kinase test as an early diagnostic tool. If the test reveals abnormalities, the doctor may recommend genetic testing to determine which form of muscular dystrophy is involved, using this information to develop treatment recommendations and a long-term plan for the patient. Appropriate treatment can radically improve the patient’s quality of life and independence, as well as potentially increase the patient’s life span.
Protect your devices with Threat Protection by NordVPN
