Index
In the course of life, we are subject to face several serious events and others not so much, that can hinder our plans or even compromise your future, and one of them is muscular dystrophy.
What is Muscular Dystrophy?
Muscular dystrophy is a set of disorders that cause progressive loss of muscle mass and as a result, loss of strength in the muscles.
It is a condition caused by genetic mutations that interfere with the production of muscle proteins necessary to build and maintain healthy muscles.
The absence of these proteins can cause problems with muscle coordination , as well as walking and swallowing. It is a genetic disease and, consequently, a family history of muscular dystrophy increases the chance of another family member developing the disease.
Muscular dystrophy can happen at any stage of life, but it is usually diagnosed in childhood. Boys are more likely to develop this disorder than girls.
The diagnosis of muscular dystrophy depends on the type and severity of the symptoms . However, most people with muscular dystrophy lose the ability to walk and end up needing to use a wheelchair.
Types of Muscular Dystrophy
There are more than 30 different types of muscular dystrophies, but only a few have their symptoms and severity widely known:
Duchenne Dystrophy
It is the most common type of the disease. And it is the most frequent form in children . Symptoms usually begin before the third birthday. The vast majority of those affected are male, it is unusual for girls to develop Duchenne dystrophy.
People with Duchenne dystrophy usually need a wheelchair before they are 12 years old . Life expectancy for people with this disease is the end of adolescence or the beginning of the second decade of life.
Symptoms:
- Loss of reflexes
- Difficulty walking
- Difficulty standing when sitting
- Weakening of bones
- Bad posture
- Scoliosis (which is excessive curvature of the spine)
- Breathing difficulties
- Difficulty swallowing
- Weakening of the lung and heart
- Mild mental disability
Becker’s Dystrophy
Becker’s muscular dystrophy is very similar to Duchenne’s muscular dystrophy, only less severe. This type of muscular dystrophy also affects a greater number of males.
Symptoms appear between the ages of 11 and 25 and begin with muscle weakness, especially in the arms and legs. Many people with this disease will only need a wheelchair around the age of thirty or a little while, while a small percentage never need it. Most of these people live to middle age or older.
Symptoms:
- Tiptoeing
- Frequent falls
- Muscle cramps
- Difficulty getting up from the floor
Congenital Dystrophy
Congenital muscular dystrophies are often found between birth and 2 years of age. That is when the child begins to demonstrate difficulties in the development of motor functions and muscle control.
Parents, realizing such limitations seek medical help . Although symptoms vary from mild to severe, most people with congenital muscular dystrophy need help sitting or standing because they cannot do it on their own.
The lifespan of a person with this type of disease varies, depending on the symptoms. Some of them die in childhood , while others live to adulthood.
Symptoms:
- Muscle weakness
- Breathing problems
- Low motor control
- Difficulty swallowing
- Being unable to sit or stand without support
- Scoliosis
- Foot deformities
- Intellectual disability
- Vision problems
- Speech problems
Distrofia De Emery-Dreifuss
Emery-Dreifuss muscular dystrophy is also a type of dystrophy that tends to affect boys more than girls. In general, it begins to manifest itself in childhood . Most people with Emery-Dreifuss muscular dystrophy die in mid-adulthood, from lung or heart failure .
Symptoms:
- Weakness in the muscles of the arms and legs
- Heart problems
- Breathing problems
- Shortening of the muscles of the spine, neck, elbows, knees and ankles.
Myotonic dystrophy
This form of muscular dystrophy, also called Steinert’s disease or Mitonic dystrophy, makes the muscles unable to relax after contracting (myotonic).
Myotonics only happens in this type of muscular dystrophy. Myotonic dystrophy can affect the muscles of the face, as well as the adrenal glands, the central nervous system, thyroid, eyes, heart, and gastrointestinal tract.
This type of dystrophy can also cause impotence and testicular atrophy in men; in women, it can cause irregular menstrual periods and infertility .
Myotonic dystrophy is usually diagnosed in adults between the ages of twenty and thirty . Although symptoms can affect quality of life, most are not life-threatening and patients are often long-lived.
Symptoms usually appear first on the face and neck. Falling of the muscles of the face, giving an appearance of thinness and dejection.
Symptoms:
- Difficulty lifting the neck (weak neck muscles)
- Difficulty swallowing
- Weight loss
- Drooping eyelids (ptosis)
- Vision problems, including cataracts
- Early baldness in the frontal region of the head
- Increased sweating
Ocular-Pharyngeal Dystrophy
Oculopharyngeal dystrophy occurs in men and women and is usually diagnosed when the person is in their forties or fifties . It causes weakness in the muscles of the face, neck and shoulders.
Symptoms:
- Voice changes
- Drooping eyelids (ptosis)
- Vision problems
- Difficulty swallowing
- Difficulty walking
- Heart problems
Fascio-Scapulo-Umeral Dystrophy
Fascio-scapulo-humeral dystrophy is also known as Landouzy-Dejerine disease. This type of muscular dystrophy tends to affect the muscles of the face, shoulders and arms.
Fascio-scapulo-humeral dystrophy progresses slowly; and symptoms usually appear during adolescence, but are hidden until around the age of forty.
People with this type of dystrophy have difficulty chewing or swallowing and their mouth may be crooked. The shoulders droop and the shoulder blades look like wings.
Fewer people can develop hearing and breathing problems . Most people who develop this disease have a normal life expectancy.
Muscular dystrophy of the scapular and pelvic girdles
Muscular dystrophy of the scapular and pelvic girdles causes weakening of the muscles and loss of muscle mass. This form of muscular dystrophy affects both sexes.
Muscular dystrophy of the scapular and pelvic girdles usually begins in the shoulders and hips, but can also occur in the legs and neck. People with this type of muscular dystrophy may have difficulty getting up from a chair, going up and down stairs, moving laterally and carrying heavy objects.
They can also trip and fall more easily. Most people with this form of muscular dystrophy are disabled by the age of 20 ; however, most of them have a normal life expectancy.
Distrofia Distal
This type, also called Distal Myopathy, affects the muscles of the arms, hands, legs and feet. It can also affect the muscles of the respiratory and cardiac systems.
Symptoms, which include loss of fine motor skills and difficulty walking , tend to progress slowly. This disease affects people of both sexes and most are diagnosed between 40 and 60 years of age.
Causes Of Muscular Dystrophy
Muscular dystrophy is caused by mutations in the X chromosome. Each version of muscular dystrophy is due to a different set of mutations, but they all prevent the body from producing dystrophin.
Dystrophin is an essential protein for building and repairing muscles . Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes the cytoskeletal protein dystrophin protein.
Dystrophin represents only 0.002% of the total proteins in the striated muscle (formed by cylindrical muscle fibers), but it is an essential molecule for the general functioning of the muscles.
Dystrophin is part of an incredibly complex group of proteins that allow muscles to function properly. The protein helps to anchor various components within the muscle cells and connects them all to the sarcoderma – the outer membrane.
If dystrophin is absent or deformed, this process does not work properly and disturbances in the outer membrane occur. This weakens the muscles and can also actively damage the muscle cells themselves .
In Duchenne muscular dystrophy, dystrophin is almost entirely absent; the lower the dystrophin produces, the worse the symptoms and the etiology of the disease. In Becker muscular dystrophy , there is a reduction in the amount or size of the dystrophin protein.
The gene encoding dystrophin is the largest gene known to humans. More than 1000 mutations in this gene have been identified in Duchenne and Becker muscular dystrophy.7
Diagnosis Of Muscular Dystrophy
There are several techniques used to definitively diagnose muscular dystrophy:
The genetic mutations involved in muscular dystrophy are well known and can be used to make a diagnosis.
- Enzymatic tests – blood is tested for enzymes released by injured muscles
- Genetic testing – blood is tested for genetic markers of muscular dystrophy
- Electromyography – a needle electrode is inserted into a muscle to test its electrical activity
- Muscle biopsy – a muscle sample is tested for muscular dystrophy
- Heart monitoring – electrocardiography and echocardiography can detect changes in the heart’s muscles. This is especially useful for the diagnosis of myotonic muscular dystrophy.
- Lung monitoring – checking lung function may provide additional evidence
Muscular Dystrophy Treatment
The treatment for muscular dystrophy is based on medications and various therapies that help to slow the progression of the disease and keep the patient mobile for as long as possible.
Medicines
The two most common drugs prescribed for muscular dystrophy are:
- Corticosteroids – although this type of medication can help increase muscle strength and slow progression, its long-term use can weaken bone and increase weight gain
- Medicines for the heart – if muscular dystrophy affects the heart, medications for heart problems can be useful
Physiotherapy
General Exercises – A series of movements and stretching exercises can help to combat the inevitable internal movement of the limbs, as the muscles and tendons decrease. The limbs tend to be fixed in position, and these types of activities can help to keep them mobile for longer. Standard low-impact aerobic exercise, such as walking and swimming, can also help slow the progression of the disease.
Respiratory Care
As the muscles used to breathe become weaker, it may be necessary to use devices to help improve the oxygen supply during the night. In the most severe cases, a patient may need assisted ventilation (breathing with the aid of devices).
Occupational Therapy
It helps the individual to become more independent. This therapy is about problem-solving skills, social skills and how to access useful community services.
Mobility Aids
Canes, wheelchairs and walkers.
Surgery
To help correct muscle shortening, treat scoliosis, fix cataracts, or treat heart problems
There is currently no known cure for muscular dystrophies, but the combination of medical and physical treatments can improve symptoms and slow the progression of the disease. Giving people with this condition a better quality of life.
See also: Amniocentesis – What it is, when to do it and how it is done
My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.
