• Health
  • Shopping
  • Auto
Home : health : Duchenne Muscular Dystrophy – Symptoms And Diagnosis
health

Duchenne Muscular Dystrophy – Symptoms and diagnosis

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.

Prev

Coping with urges that can trigger a relapse post treatment

Read More
Next

5 foods that make arthritis symptoms worse

Read More

Don’t Miss

4 Small Pickup Trucks to Choose From

Read More

Tips to get the best car leasing deals

Read More

5 affordable crossover SUVs you can buy without thinking twice

Read More

What to consider before buying a Chevy Silverado 1500

Read More

Interesting facts you must know about the Corvette

Read More

Featured Articles

020 RAM 1500 trims and their defining features

020 RAM 1500 trims and their defining features

Read More
4 extended vehicle warranties you should consider

4 extended vehicle warranties you should consider

Read More
The 2020 Jeep Grand Cherokee – Specs, features, and price

The 2020 Jeep Grand Cherokee – Specs, features, and price

Read More
Here’s what you need to know before looking for tire coupons

Here’s what you need to know before looking for tire coupons

Read More

© 2025 Coupda.com. All Rights Reserved.

  • About Us
  • Contact Us
  • Privacy Policy
e
Do Not Sell or Share My Personal Information