Duchenne muscular dystrophy – Common signs and diagnosis

Duchenne muscular dystrophy – Common signs and diagnosis

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that affects muscle strength and mobility. It commonly affects young boys, with symptoms developing during early infancy or childhood. Over time, the condition can lead to muscle deterioration. Here, recognizing the symptoms of DMD in time is crucial for seeking an early diagnosis and appropriate management options to slow down disease progression. So, here are a few things to know about the disorder:

What is DMD?
Duchenne Muscular Dystrophy is a genetic disorder characterized by the progressive weakening and wasting of muscles. It is one of the most common forms of muscular dystrophy, and it primarily affects young males. DMD is caused by mutations in the dystrophin gene that lead to the absence or dysfunction of dystrophin—a protein vital for muscle stability. This is an X-linked recessive disorder, meaning it primarily affects males. So, females can be carriers of the mutated gene without experiencing any symptoms, but males born to carrier mothers have a 50% chance of inheriting the mutated gene and developing DMD.

Symptoms
DMD often presents its initial symptoms in early childhood, usually between the ages of 2 and 4. So, it is important to keep an eye out for signs such as delayed motor milestones, difficulty standing, and frequent falls.

Popular Articles

01

Muscular dystrophy – Signs and management options

Muscular dystrophy is a group of genetic muscle disorders that cause the progressive weakening and degeneration of muscle tissue. These conditions can affect people of all ages and cause various degrees of muscle weakness and disability. Early detection and subsequent treatments can significantly improve the quality of life for those affected. Here are some early warning signs of muscular dystrophy and treatment options. Muscle weakness Muscle weakness is often one of the earliest signs of muscular dystrophy. Muscular dystrophy is characterized by the deterioration of muscle fibers, making them less capable of contracting and generating force. As muscle fibers weaken and die, muscle strength diminishes. Affected individuals may experience difficulty performing simple tasks like lifting objects, climbing stairs, or getting up from a seated position. This weakness typically begins in the muscles closest to the trunk of the body and gradually spreads to other muscle groups. Frequent falls Muscle weakness can affect the stability and coordination required to maintain balance. As the muscles weaken, the ability to react quickly to changes in posture or movement diminishes, leading to an increased risk of falls. Children with muscular dystrophy may tend to fall more often than their peers, especially when running or participating in physical activities.
Read More
02

9 possible reasons for period pain

Thousands of women in the country experience a common yet debilitating discomfort known as menstrual cramps or dysmenorrhea. While this monthly ordeal is often regarded as a rite of passage for women, it’s essential to understand the underlying causes of period pain. By delving into the reasons behind menstrual cramps, let’s shed light on this often-overlooked aspect of women’s health and explore strategies to manage and alleviate the pain. Uterine contractions The uterus, a muscular organ, contracts during menstruation to help shed the uterine lining. These contractions may cause cramping sensations in the lower abdomen, ranging from mild discomfort to severe pain. The intensity and duration of these contractions could vary from one woman to another, influencing the severity of menstrual cramps. Prostaglandins These hormone-like substances, play a pivotal  role in regulating various physiological processes in the body, including  inflammation and blood flow. During menstruation, the release of prostaglandins triggers more muscular uterine contractions, which might lead to more painful cramps. Additionally, high levels of prostaglandins could cause other symptoms like diarrhea and nausea. Endometriosis Endometriosis is a chronic condition in which tissue resembling the uterine lining grows outside of the uterus. Over time, the tissue might become inflamed, causing intense pain during their period.
Read More
03

13 warning signs of Huntington’s disease

Huntington’s disease (HD) is a rare neurological disorder that affects the brain’s nerve cells over time. A progressive decline in motor skills, cognitive function, and emotional well-being characterizes it. While the onset of symptoms can vary from person to person, recognizing the warning signs is crucial for early diagnosis and management. Here are some of the key indicators or early warning signs that may signal the presence of Huntington’s disease. What is Huntington’s disease? Huntington’s disease (HD) is a hereditary disorder caused by a mutation in the HTT gene, producing an abnormal form of the huntingtin protein. This mutated protein gradually damages certain areas of the brain, particularly the basal ganglia and cerebral cortex, which play crucial roles in regulating one’s emotions, memory, physical actions, and the ability to perform mental tasks, including thinking and decision-making. The condition has been closely linked to diabetes and abnormal changes in one’s glucose metabolism. A physical examination and a blood test often lead to its diagnosis. Warning signs of Huntington’s disease Involuntary and jerky movements Individuals may notice involuntary movements, known as chorea, which often begin subtly and gradually worsen over time. These movements can manifest as cramps, tremors, or other jerky motions that affect the body’s arms, legs, face, and other parts.
Read More