What is Duchene Muscular Dystrophy?

Duchene muscular dystrophy is one of the most severe types of muscular dystrophy. This disorder is characterized by muscle weakness and atrophy [1]. The muscles progressively become smaller and waste away, resulting in difficulty in standing up, walking, moving, and maintaining posture. This weakness affects the muscles of the heart as well. It is a genetic disorder that runs in families. It is caused by an inability of the muscles to respond to the nerve impulses coming from the brain. This type of muscular dystrophy affects male children only. Females can be carriers of the disease.

 

What are the Symptoms of Duchene Muscular Dystrophy?

The symptoms of this disease appear progressively with advancing age. The child is usually normal for up to 8 years of age. The most common initial symptoms include weakness of the shoulders and pelvis, difficulty getting up from a sitting position, waddling gait, etc. Here are some of the most common symptoms of DMD [2]:

• Waddling gait
• Inability to jump
• Difficulty in standing up from a sitting position
• Leg pain
• Scoliosis
• Lordosis
• Fatigue
• Calf muscle hypertrophy
• Cardiomyopathy
• Respiratory failure
• Muscle weakness
• Muscular dystrophy
• Tip-toe walking
• Cognitive impairment
• Delayed speech
• Difficulty in climbing stairs
• Facial weakness

Unfortunately, these symptoms are progressive and very severe. The boys suffering from DMD usually do not survive beyond their teen years. However, advancements in cardiac and respiratory care have improved the quality and expectancy of life a little. 

 

What are the Types of Duchene Muscular Dystrophy?

Duchene muscular dystrophy belongs to a group of diseases called dystrophinopathies. These diseases are characterized by progressive muscle weakness [3]. The other three forms of dystrophinopathies are the following:

• Becker’s muscular dystrophy (BMD), is a milder form of DMD.
• An intermediate form between DMD and BMD
• DMD-associated dilated cardiomyopathy

 

 

What are the Causes of Duchene Muscular Dystrophy?

Duchene muscular dystrophy is an X-linked recessive disorder that affects male children only [4]. Females are carriers, who carry an abnormal dystrophin gene on their X chromosome that when passed on in males, produces DMD. Dystrophin is a protein that keeps muscle cells together. The absence of dystrophin causes muscle weakness and fragility.

 

What are the Treatment Options for Duchene Muscular Dystrophy?

Symptomatic and supportive care is the mainstay of DMD treatment. Currently, there is no cure for this disease. The following are some commonly available supportive care options for DMD [5]:

• Medical therapy: corticosteroids like prednisolone and deflazacort are known to slow down muscle weakness. They improve lung function and delay scoliosis. ACE inhibitors and beta blockers slow the progression of heart failure and cardiomyopathy.

 

• Physical therapy: exercise and physiotherapy help prevent contractures and improve body movements. Exercise slows the pace of muscle atrophy.

 

• Surgery: in severe cases, surgery is advised to help with scoliosis and to release contractures.

 

 

 

References:

1. https://www.ncbi.nlm.nih.gov/books/NBK482346/
2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332113/
3. https://www.ncbi.nlm.nih.gov/books/NBK1119/
4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1299132/#:~:text=Duchenne%20muscular%20dystrophy%20(DMD)%20is,427%2DkDa%20cytoskeletal%20protein%20dystrophin.
5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3440798/

 

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