ScrollPages.com | Quick And Reliable Information

Duchenne Muscular Dystrophy – Symptoms and diagnosis

Duchenne-type muscular dystrophy (DMD) is a rare genetic disorder primarily affecting young boys. This progressive and debilitating condition gradually weakens muscles, leading to severe disability and a shortened lifespan. In most cases, this condition is passed down to males in the family. While the children can grow up normally in the initial stages, the signs can appear suddenly. Hence, this article delves into DMD, its symptoms, diagnosis, and treatment.

What is Duchenne-Type Muscular Dystrophy (DMD)?
Duchenne-type muscular dystrophy is a genetic disorder that primarily affects muscle function. It is one of the most common forms of muscular dystrophy, with an estimated incidence of 1 in 3,600 male births.
DMD is caused by mutations in the dystrophin gene located on the X chromosome. This results in the absence or deficiency of the dystrophin protein. Dystrophin plays a crucial role in maintaining the structural integrity of muscle fibers. So, its absence leads to muscle degeneration and weakness.

What are the symptoms of DMD?
The onset of symptoms in DMD typically occurs during early childhood, usually between the ages of 2 and 5. Common signs and symptoms of DMD include:

Muscle weakness
Initially, children may display difficulty in activities that require muscle strength, such as climbing stairs or standing up from the floor.

Delayed motor milestones
Children with DMD may exhibit delayed motor development, such as walking later than expected.

Frequent falling
Due to muscle weakness, affected children may fall frequently and have trouble maintaining balance.

Progressive muscle degeneration
Over time, muscle weakness becomes more pronounced and widespread, affecting the arms, legs, heart, and respiratory muscles.

Enlarged calves
Some children with DMD may develop enlarged calf muscles, a condition known as calf pseudohypertrophy, due to the accumulation of fat and connective tissue.

Breathing difficulties
As DMD progresses, respiratory muscles become affected, leading to breathing difficulties, especially during sleep.

How is DMD diagnosed?
The diagnosis of DMD generally unfolds as follows:

Clinical assessment
Physicians will conduct a thorough medical history and physical examination, focusing on motor milestones and muscle weakness.

Blood tests
Blood tests can identify elevated creatine kinase levels, an enzyme released when muscles are damaged.

Genetic testing
A genetic test, such as DNA sequencing or multiplex ligation-dependent probe amplification (MLPA), can confirm the presence of mutations in the dystrophin gene.

Muscle biopsy
In some cases, a muscle biopsy may be performed to examine muscle tissue under a microscope, which can reveal the characteristic muscle fiber damage seen in DMD.

How is DMD treated?
The treatment of DMD can include:

Physical therapy
Physical therapy helps maintain muscle strength, flexibility, and function. Here, exercises are tailored to individual needs.

Assistive devices
Mobility aids, braces, and wheelchairs may be recommended as muscle weakness progresses to help maintain mobility and independence.

Respiratory support
Individuals may require mechanical or non-invasive ventilation to support breathing as respiratory muscles weaken.

Popular Reads

Here’s how you can get your allergies detected

How many times have allergies caused you to sneeze every time you take a ride in the open air? Or rashes on coming in contact with a plant? Or swelling as a result of a peanut allergy? Sneezing, running noses, watery eyes, rashes, swelling all these reactions due to allergies can be quite distressing. Allergies are more common and can be caused by various things. The cause of allergies is still unknown, it could be genetic or just a singular development. However, they can be easily detected by just visiting your doctor and undergoing some tests. Read on to know more about what are allergies and how to detect them. What are allergies? The immune system is designed to fight any entrant in the body that it recognizes as foreign. However, at times, the immune system becomes over vigilant and starts fighting foreign entrants that are not harmful. Substances that cause the immune system to react this way are called “allergens”, and when you display symptoms of these interactions, you are diagnosed “allergic” to the substance. Allergens can include plants, grass, pollen, dust, food, animal dander among others. While symptoms like running nose, sneezing, watery eyes, rashes, itching, and others, are all attributed to allergic reactions.

5 frequently asked questions about Alzheimer’s disease

A common form of dementia, Alzheimer’s disease is a debilitating and progressive disease that affects the brain and motor functions of the body. The disease progresses through stages. It begins to affect the regions of the brain that control language, thought, and memory. In most of the cases, it begins with a slight memory loss. In the final stages, Alzheimer’s disease leads to the loss of various abilities including motor skills, speech, and independent movement. Here are a few frequently asked questions about Alzheimer’s. What are the causes? Alzheimer’s disease does not have any definite cause. Research has been unable to conclude whether Alzheimer’s is developed by one cause or multiple ones. The exact cause of the ailment is not yet known. However, there are multiple factors that may increase the risk of Alzheimer’s disease. One of the major causes is ageism. Also, a family history of Alzheimer’s is another major risk. This may lead to the inheritance of genes that cause this disease. Some other possible risk factors that can cause Alzheimer’s include high blood pressure, cardiovascular diseases, and high cholesterol. What are the symptoms? In most cases, the first warning sign of Alzheimer’s disease is a loss of cognitive ability.

Four important steps in anemia management

Hemoglobin is a protein molecule in the red blood cells responsible for carrying oxygen throughout the body. Its richness in iron gives blood its red color. Anemia is a condition where a person has low hemoglobin or red blood cell count. From an underlying disease to nutrient deficiencies, there are a lot of factors that contribute to the onset of this condition. There are many forms of anemia. Some of them include: Iron deficiency anemia -This is caused due to low iron levels in the blood. Most common causes of this type of anemia are heavy menstruation or internal bleeding. Vitamin deficiency anemia – This type of anemia is caused by the deficiency of vitamin C, B-12 or folate Aplastic anemia – Damaged stem cells in the bone marrow fail to produce enough red blood cells, leading to aplastic anemia. Sickle cell anemia – This is a condition characterized by the development of abnormal crescent-shaped red blood cells. Hemolytic anemia – This is a blood disorder caused due to premature death of red blood cells. Thalassemia – This is caused due to low amounts of hemoglobin in the blood. The blood disorders vary in duration and severity. Prompt diagnosis, and treatment are important because anemia could also be due to an underlying condition.