In this article, we will discuss about Muscular Dystrophy Symptoms and Causes
What is muscular dystrophy?
Muscular dystrophy is a term that refers to a category of muscular diseases. There are more than 30 types of muscular diseases included in the dystrophy.
This condition is generally derived and causes damage to the muscles as time goes by. Gradually, the muscles will become weaker and cannot function properly.
Muscle damage and weakness are caused by a lack of protein called dystrophin, which is an important protein in normal muscle function. People with this disease usually have difficulties in walking, sitting, swallowing, and doing movements that require coordination of muscles.
There are several different kind of muscle disorders. Here are the most common types of dystrophy:
- Duchenne Muscular dystrophy (DMD)
- Landouzy-Dejerine Muscular dystrophy
- Myotonic muscular dystrophy (MMD)
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Causes of muscular dystrophy
Muscular dystrophy is caused by a mutation in the X chromosome. Each version of a muscular dystrophy is caused by a different set of mutations, but all prevents the body from producing dystrophin, a protein that is essential for building and repairing muscles.
Duchenne muscular dystrophy is caused by a specific mutation in the gene that encodes the cytoskeletal protein dystrophin. Dystrophin forms only 0.002 percent of total protein in the striated muscles, but this is an important molecule for common muscle function.
Dystrophin is part of a very complex protein group that allows muscles to work properly. These proteins help the various components in muscle cells together and connect them all with sarcolemma (outer membranes). If dystrophin are not present or disabled, this process does not work properly, and interference occurs on the outer membrane. This condition weakens the muscles and can also actively damage the muscle cells themselves.
In Duchenne muscular dystrophy, dystrophin hardly exist at all. The fewer dystrophin produced, the worse the symptoms and etiology of this muscle disease. In Becker muscular dystrophy, there is a reduction in the amount or size of dystrophin proteins. Genes that encode dystrophin are the largest genes known to humans. More than 1,000 mutations in this gene have been identified on Duchenne and Becker.
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What are the initial symptoms like?
Not a few children with muscular dystrophy followed a normal developmental pattern during the first few months of his life. However, when they start to experience problems with gestures.
A child with MD may begin to lose balance, stumble, have trouble climbing the stairs, and on foot (wheeled). A child may begin to struggle to rise from a sitting position or trouble pushing something, like a tricycle.
Children with MD often experience swelling of the calf muscles (pseudohypertrophy of the calf) because the muscle tissue is destroyed and replaced by fat.
The main symptoms of muscular dystrophy
Symptoms of muscular dystrophy usually begin in early childhood around the age of 2-6 years, which cause children difficult to stand, walk, let alone climb the stairs. Muscular dystrophy has symptoms or signs like the following:
- Difficult to walk
- Often fall
- Enlarged calf muscles
- Lack of motor capability
- Learning delays
- Easy to get tired
- Weakness in the legs, hips, arms, and neck
- Awkward / stiff movements
- Unable to jump or jump normally.
- Strange or abnormal walking.
- Pain in the leg area.
- Often experience muscle cramps.
- Inability to close eyes
- Weakness in the shoulder and arm area
Muscular Dystrophy Symptoms
The main symptom of muscular dystrophy is muscle weakness that will deteriorate as time passes. Signs and symptoms of muscle dystrophy are specifically initiated at different ages and in different muscle groups, depending on the type of muscle dystrophy. There are more than 30 types of muscular dystrophy, with 9 categories used as a reference diagnosis.
Duchenne Muscular Dystrophy (DMD) – type of muscular dystrophy
Duchenne Muscular dystrophy is the most common form of muscular dystrophy that is more prevalent in boys, and usually starts at ages between 3-5 years. Girls have a 50 percent chance of inheriting and lowering the gene to their children someday. About a third of the boys with Duchenne Muscular dystrophy (DMD) do not have a history of illness in the family. This may be due to the genes involved, experiencing sudden abnormal changes (spontaneous mutations). DMD is caused by the loss of Dystrophin, which is a protein that helps keep muscle cells intact.
Symptoms that usually arise are:
- Often dropped
- Difficulty moving or waking from a lying down or sitting position
- Difficulty in running and jumping
- Walking on a wheeled
- Large calf muscles
- Muscle pain and stiffness
- Difficulty walking
- Poor posture
- Scoliosis
- Weakness of the heart muscle and lungs
- Breathing difficulties
- Mild intellectual interference
Children with DMD will usually need a wheelchair before the age of adolescence.
Muscular dystrophy symptoms may also resemble other conditions or medical problems. Consult always with a pediatrician to get a proper diagnosis.
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