Contents
What is muscular dystrophy?
Muscular dystrophy is the name given to a group of genetic diseases, whose main characteristic is to cause muscle degeneration and weakness.
It occurs more frequently in boys and rarely occurs in females, as it is a disease associated with the X chromosome.
Symptoms can appear from an early age, with the first signs of muscular dystrophy already at 2 years of age.
The speed of this degeneration and the muscle groups that can be affected are varied, as it depends on the type of muscular dystrophy that the patient has.
There are about 30 types of muscular dystrophy, some of which are more common, such as Duchenne muscular dystrophy and Becker muscular dystrophy.
Muscular dystrophy has no cure or specific treatments that can reverse or recover from this degeneration. However, there are some forms of therapy and physiotherapy that help the patient to have a more comfortable life.
It is considered a serious disease, as it does not allow a long life expectancy. Before, it was expected that these patients could live to be 25 years old. Currently, in more developed countries, it is possible for the patient to reach the age of up to 35 years.
Types
There are more than 30 different types of progressive muscular dystrophy, some of which are more severe than others, which can even be benign.
Although it is more common in boys and in childhood, it can affect both sexes, even as adults.
All of them attack the muscles in a degenerative way, although the types of muscular dystrophy affect different muscles. Know the most common types:
Duchenne muscular dystrophy
Duchenne muscular dystrophy, also known as pseudohypertrophic muscular dystrophy or DMD, is an inherited genetic disease. It is the most severe form of muscular dystrophy, and it is also the most frequent.
It affects only people of the biological male sex. It occurs, on average, between 1 in every 3 thousand born boys, in the age group of 2 to 6 years and usually evolves more quickly.
The first signs of muscular dystrophy appear in the first steps, in the process in which the boy is starting to walk.
The child has difficulty raising, climbing or descending stairs and frequently falls.
When compared to other children of the same age group, it is possible to perceive the muscular difficulty and weakness that is developing. It is also common for them to have an increase in the volume of their calves, such as pseudohypertrophy.
This pseudohypertrophy is a muscle growth that occurs in the potato region of the leg, as the calf region is also known. Despite the appearance, it does not mean that the muscle is healthy and strengthened.
The cause of this type of muscular dystrophy is a disorder related to dystrophin protein , responsible for maintaining the integrity of the cell fiber. Patients with Duchenne muscular dystrophy have an insufficient amount of this protein, which is a response to the action of a defective gene.
There are two ways for this defective gene to be present in the patient: heredity or genetic mutation.
When both parents have the disease, there is a 50% chance that the child will develop muscular dystrophy, if the child is male. In girls, there is no such risk, but there is a 50% chance of carrying the gene.
There is also the possibility that the gene arises from a genetic mutation, without having any relation to the genetic inheritance of the parents.
This is a very debilitating disease, as it prevents the child from being able to carry out simple activities that any other child of his age can do without great efforts.
The muscle degeneration caused can worsen to the point of leading the patient to use a wheelchair.
Life expectancy in this disease is reduced, as in most types of muscular dystrophy. There is no cure or treatment that can slow the progress of dystrophy.
However, patients can use different therapies and physiotherapies to improve quality of life.
Distrofia muscular de Becker
Becker muscular dystrophy (BMD) is the second most common type of muscular dystrophy. However, it is also a rare type, with a 10-fold lower incidence in cases of Duchenne muscular dystrophy. The occurrence is 1 case in 30 thousand births of male people.
It is a genetic neuromuscular disease, characterized by the loss of muscle mass, where the affected patients have a lot of weakness, also suffering degeneration of smooth, cardiac and skeletal muscle.
Unlike Duchenne’s muscular dystrophy, in Becker’s, all daughters of men affected by the disease will carry the defective gene, which causes the degenerative disease.
The vast majority of women carrying the gene are asymptomatic, and there may be some cases in which there are clinical manifestations. But, it is not a frequent thing.
Women in the family of a patient who contains Becker’s muscular dystrophy are able to make a diagnosis during prenatal care, with a molecular test, to confirm, in the case of a male baby’s pregnancy, whether he has received this genetic inheritance.
Symptoms are similar to Duchenne-type symptoms, but are considered milder and have a slower progression. Its appearance is also later.
This disease has extensive variability, and it can occur with varying degrees of impairment in members of the same family.
Congenital muscular dystrophy
This is a degenerative disease, primary and progressive, of the skeletal muscle, where the cause is due to the deficiency of the merosin protein. It begins to develop in the child when it is still in the womb or during its first year of life.
In congenital muscular dystrophy (CMD), the patient has progressive muscle retractions and has a decrease in tendon reflexes.
This impairment causes weakness and loss of muscle tone, predominantly in the upper shoulder (shoulder girdle) and pelvic region, but it also affects the cervical, masticatory, facial and paravertebral muscles.
This type of muscular dystrophy has an occurrence from 1 case to 60 thousand, at birth. And 1 for every 100 thousand, within the first year of life.
There are four ways in which CMD can manifest itself, namely:
- Classical or pure CMD : in which there is no involvement of the Central Nervous System (CNS);
- Fukuyama type DMC : the patient has some type of mental disability and changes in the Central Nervous System (CNS);
- Muscle Eye-Brain Syndrome: the patient’s condition in this type of CMD is severe. It affects the muscular and mental condition aggressively, also causing eye problems;
- Walker-Walburg syndrome : the disease causes brain changes, causing mental deficiency and eye problems.
Steinert’s myotonic muscular dystrophy
Of the types of muscular dystrophy that manifest during adulthood, this is the most common.
It is related to the clinical picture of myotonia, which is characterized by the difficulty in relaxing the muscle after a vigorous contraction.
For example, someone who suffers from this condition, when holding an object tightly, has great difficulty in relaxing the muscles of the hand and letting go of the object.
The disease progresses and causes muscle weakness, in addition to the damage caused in other systems, such as visual, cardiac and endocrine, for example.
For this reason, it presents complications such as cataracts , cardiomyopathy, baldness and hypogonadism and diabetes .
Girdle-type muscular dystrophy
This type of muscular dystrophy can happen in both sexes, having a progressive character of a wide genetic variety.
As with other muscular dystrophies, it causes weakness. However, in this type it predominantly affects the pelvic region (hips and thighs).
As the disease progresses, it also affects the scapular region (shoulders and arms).
Symptoms can manifest themselves in the first year of life or throughout the first decade.
It also presents different degrees of motor impairment, in which patients may suffer from more severe conditions, as in the case of Duchenne muscular dystrophy, and also milder levels, with daily activities not being compromised.
In this disease, the proteins necessary to maintain muscle health are calpain, fukutin, dysferlin and sarcoglycans.
Facio-scapulo-umeral muscular dystrophy
Facio-Scapulo-Umeral Muscular Dystrophy is a type of dystrophy that has the characteristic of impairing facial muscles, arms and shoulders.
It can happen from the first years of life or even in adulthood. Among the types of dystrophy, it does not become so aggressive. Many patients are able to lead a normal life, even with the symptoms caused by the disease.
The occurrence is 1 in every 20 thousand births, and may affect men and women. The first sign is the weakness of the facial muscles. In these cases, the patient has difficulty whistling, opening his eyes and smiling.
Oculopharyngeal muscular dystrophy
The main characteristic of Oculopharyngeal Muscular Dystrophy is the wasting caused in the muscles of the face. Oculus and pharyngeal, respectively, mean eyes and throat.
Usually, this type of dystrophy manifests itself in patients in adulthood, between 48 and 50 years old. As the disease progresses, the pelvic and shoulder muscles can also be affected. Complications such as pneumonia and asphyxia can happen in more severe cases.
Distrofia muscular distal
In this type of muscular dystrophy the main characteristic present is the atrophy and weakness in the limbs considered as distal, being them hands, feet, legs and forearms.
Symptoms can manifest during childhood or adulthood, occurring in women and men. It happens progressively and does not affect as many muscles as other forms of muscular dystrophy.
Distrofia muscular Emery-Dreifuss
The main characteristic associated with this type of muscular dystrophy is the signs of chronic myopathy.
The first signs of this disease appear early in childhood, and, as with other types of muscular dystrophy, the Emery-Dreifuss type also affects only boys.
It is a rarer type, in which muscular dystrophy and weakness end up causing symptoms such as the contraction of the Achilles tendons, elbows and neck.
At first, atrophy and weakness specifically affect the humerus-peroneal distribution, a region structured by the longest bones in the arms and legs.
With the evolution of the pathology, these conditions spread through the musculature of the scapular and pelvic girdles.
These symptoms occur progressively, in which it is possible that these patients lose the ability to walk without using a wheelchair.
Around the age of 20, they already have more aggressive cardiac complications, such as conduction disorders, rhythm deficiency and dilated cardiomyopathy.
Causes
Muscular dystrophy is caused by a genetic defect related to the X chromosome, which can happen due to genetic inheritance from parents or a mutation.
The presence of this defective gene ends up causing problems such as muscle degeneration and weakness, since the muscle is not able to contract and relax normally.
This cause is directly associated with the deficiency of proteins essential for the health of the muscles, since this gene is not able to function perfectly for the production of these proteins.
In the case of the most common muscular dystrophy, the Duchenne type, for example, the disease occurs due to the presence of the defective gene and the lack of dystrophin protein , responsible for maintaining the health of the cellular fiber in the muscles.
Among other causes that may be related to muscular dystrophy, but that are less common, there are:
- Absence of essential proteins for the muscle cell or inadequate formation;
- Deficiency of peripheral nerves;
- Disorder of the endocrine glands;
- Abnormalities in the metabolism, which can cause damage to the nutrition of the muscles.
To better understand, see what are the three types of genetic inheritance:
Autosomal dominant inheritance
This type of inheritance happens when only one of the child’s parents needs the gene for the mutation so that the child can develop muscular dystrophy.
When a parent has the genes capable of developing the disease, there is a 50% chance that their children will inherit. Men and women are at risk of developing the disease, even though it happens more in male people.
However, it will depend on each person, as the disease does not manifest itself in the same way, even if it is the same type.
Some examples of types of muscular dystrophy that correspond to this classification are congenital myotonic muscular dystrophy and waist muscular dystrophy.
Autosomal recessive inheritance
In the case of autosomal recessive inheritance, both parents need to carry and pass on the defective gene to the child. In this condition, it does not mean that the parents have some type of muscular dystrophy.
Children will have, in this type of inheritance, a 25% chance of inheriting both copies of the defective gene from their parents. The presence of both genes means that the child can develop the disease.
There is also a 50% chance that she will inherit only one gene, which does not mean that she will have muscular dystrophy, but that she will pass on the gene.
Children of both sexes can receive this inheritance. DMC and waist dystrophies are part of the dystrophies with this cause.
Recessive inheritance linked to sex
This is the cause of predominantly cases of muscular dystrophy in boys, such as Duchenne and Becker muscular dystrophy.
When a recessive inheritance related to sex occurs, it means that the mother carries the affected gene and that it is she who passes on the genetic inheritance to her child.
In these cases, children of women carrying the gene have a 50% chance of having the disease. Daughters have the same percentage in relation to the chances of being a carrier.
As men have the XY chromosome pair, and the X chromosome that they received is compromised, the child does not have the support of another X chromosome so that the muscles are not compromised. This explains the number of cases of muscular dystrophy in men.
Why is it more common in male people?
Muscular dystrophy is a disease related to the X chromosome, it is he who can mutate or correspond to the defective gene inherited from his parents.
While boys have the combination of XY chromosomes, women correspond to pair XX, which ends up being a genetic “privilege” when it comes to this disease.
Thus, even if the girl has a defective gene, which could manifest itself as some type of muscular dystrophy, the other X chromosome is able to keep the muscles healthy.
In males, this is not possible. Because it has only one X chromosome, its impairment leads to the incidence of this disease, which is the reason it is more common in men.
Although rare, it is possible for female people to have muscular dystrophy, as they may have their 2 chromosomes altered.
This usually occurs when the mother is a carrier and the father has the disease. It can also occur due to another genetic disorder, not related to heredity.
However, as said before, it is not a common thing. The most recurrent is that women are only asymptomatic carriers of the defective gene
Symptoms of muscular dystrophy
There are more than 30 types of muscular dystrophy and they have specific characteristics.
In some of these diseases, there are symptoms that manifest late, and in others, in the first years of the child’s life it is possible to identify muscular degeneration of dystrophy and other signs.
However, it is possible to observe some signs common to most types of muscular dystrophy. The proper diagnosis will help the doctor to analyze the specific type of each patient, being fundamental for the prognosis.
Some of the most common symptoms within muscular dystrophy are:
- Variation in the size of the muscle fiber;
- Degeneration of muscle fiber;
- Muscle tissue replaced by connective-fat tissue;
- Muscle weakness;
- Difficulty to perform daily tasks, such as running, climbing stairs, getting out of bed etc;
- Difficulties to stretch or bend the knees;
- (Difficulty in activities in which the arms need to be raised, such as reaching for objects on high shelves, washing or combing hair;
As the disease progresses, in all types of dystrophy, the symptoms become more intense and the degeneration increases.
Most patients tend to need the use of a wheelchair, between 10 and 12 years old, as they end up losing the ability to walk due to weakness.
To know a little more about the particularities of the types of muscular dystrophy mentioned above, know the most characteristic symptoms of each one:
Duchenne muscular dystrophy
Because it is the most common type of muscular dystrophy, symptoms are generally placed as synonyms for all types of dystrophy. Find out what are the characteristics of this pathology:
- Frequent falls;
- Difficulties to climb or descend stairs;
- Difficulty getting up when sitting or lying down;
- Calves thicker than normal (pseudohypertrophy);
- Difficulty running and jumping;
- Walking with difficulty (waddling or ducking) and tiptoe;
- Learning disability (dystrophin deficiency in the brain);
- Excessive curvature of the spine;
- Difficulty in activities in which the arms need to be raised, such as reaching for objects on high shelves, washing or combing hair;
- Difficulty in extending your legs.
Distrofia muscular de Becker
The symptoms of Becker muscular dystrophy are similar to Duchenne muscular dystrophy. The main characteristics, at the beginning of the disease, is walking on the tips of the feet and cramps.
As the disease progresses, this patient also has difficulty climbing and descending stairs. In addition, cardiovascular and respiratory complications are common.
About 40% of people affected by this disease need the use of a wheelchair.
Congenital muscular dystrophy
The symptoms, similar to those of other types of muscular dystrophy, appear early, being noticeable from birth to the first 2 years.
In this case, what happens is a very wide variety in the intensity of the disease’s progression. In some patients, degeneration is mild and does not prevent daily activities. In others, the complications present are serious.
There are several subdivisions of congenital muscular dystrophy, which can mean different signs from one case to another.
Within the symptoms related to this type of dystrophy are the following characteristics:
- Loss of muscle tone (neonatal hypotonia);
- Delay in motor development;
- Joint contractures;
- Possible abnormalities in the Central Nervous System (CNS) or in the eyes;
- Respiratory impairment;
- Difficulty swallowing or chewing.
Girdle-type muscular dystrophy
In this type of dystrophy, as the name suggests, the regions most affected are those of the hip and pelvis muscles. Thus, the first signs of weakness are related to this part of the patient’s body.
Another recurring sign right at the beginning is the atrophy and weakness of the shoulder muscles. The sum of these characteristics, many times, makes the individual have a lot of difficulty in getting up, not being able to lift the front part of the feet.
Facio-scapulo-umeral muscular dystrophy
Some specific symptoms of this type of muscular dystrophy are:
- Weakness in the muscles of the face, having difficulty eating, smiling, whistling, closing the eyes etc;
- When I raise my arms, the scapulae (bones that are most protruding from our back) are more outward, like wings;
- Weakness in the wrists, abdominal muscles and extensor muscles of the knees and feet.
Oculopharyngeal muscular dystrophy
The specific symptoms of this type of muscular dystrophy are associated with the muscles of the eyes and throat. Generally, they manifest themselves in adulthood, between 40 to 50 years old. Some of the signs are:
- Weakness and drop of the eyelids;
- Difficulty opening and closing your eyes;
- Weakness of the facial muscles;
- Throat problems, such as difficulty swallowing.
Distrofia muscular Emery-Dreifuss
Within this condition, the main symptoms are joint contractures, heart problems and atrophy and weakness in the humerus peroneal region.
Diagnosis
Because it is a pathology that arises, in most cases, in childhood, the patient’s first contact is often with the pediatrician , but the most recommended is that the diagnosis of muscular dystrophy be carried out by a neurologist .
Through clinical examinations, he will be able to verify what is causing the weakness present in the patient.
In addition to being able to identify the cause, you can also observe where it is occurring. Thus, it is able to understand whether the signs indicate whether or not there is a muscle disease, since the symptoms of muscular dystrophy can be caused by disorders in the nerves or spine.
After this first contact, the doctor will guide the patient through specific clinical exams to prove muscular dystrophy. See some of these exams:
CK
This is a blood test done to analyze the dosage of creatinophosphokinase, an enzyme naturally produced by our body.
In patients with some type of muscular dystrophy, this enzyme is usually present in high doses. This high concentration is an indicator that the body is suffering major muscle damage or fatigue .
In the blood sample, elevated levels of creatine kinase may indicate that something abnormal is causing this muscle wasting, which may be muscular dystrophy itself or some inflammation.
Molecular study of DNA
This diagnosis seeks, in the analysis of the DNA molecule, to verify if the patient has deletions, that is, a genetic anomaly, or other genetic errors that could be causing the lack of proteins that cause the existing types of dystrophy.
It is an alternative to the most painful exams for the patient, such as muscle biopsy, in addition to being more precise as to its potential to differentiate the type of muscular dystrophy that the patient suffers, allowing diagnosis with 60% to 70% certainty.
Muscle biopsy
Muscle biopsy, although not the simplest and most painless diagnosis, can be a possibility to investigate muscular dystrophy.
Through the sample taken during the surgical procedure, it is possible to analyze the changes that the disease caused in the muscle. It is also possible to study muscle tissue proteins.
In Duchenne muscular dystrophy, biopsy helps to see if there is an absence of the dystrophin protein. In Becker’s, on the other hand, there is the presence of this protein, but it is either insufficient or altered.
This diagnosis is recommended in cases of patients who do not have a deletion, that is, a loss of the X chromosome.
Study of RNA
The diagnosis through the study of RNA is indicated in the case of patients who have undergone the genetic mutation, which means that there is no family history of the disease.
In some patients, it can be difficult to locate where this genetic error occurred. For this, the Truncated Protein Test (PTT) is used, which makes use of the RNA extracted from blood lymphocytes to analyze what happened to the genes of the person suffering from dystrophy.
Electroneuromyography examination
This test allows you to test whether the nerves are working perfectly and also allows you to observe the reactions of the muscles. In the diagnosis of muscular dystrophy, it is important for the doctor to be able to analyze the muscular health of the patient.
Can muscular dystrophy be cured?
There is no cure for muscular dystrophy. Although it can manifest in different types and the degree of impairment varies, there is still no treatment that leads to a cure or that can stop the progression of the disease.
Unfortunately, in many cases, degeneration occurs in an accelerated and rigorous manner, leading to a reduction in life expectancy and causing the patient to have to use a wheelchair.
Treatments
Unfortunately, there is no specific treatment for muscular dystrophy. The patient in this condition can rely only on palliative treatments, which serve to alleviate the symptoms and to improve well-being on a daily basis.
However, the forms of treatment do not help to slow down or reverse the degenerative process that the muscles undergo. They also do not help to break the progression of the weakening.
However, there are initiatives to have an early diagnosis and that these patients have access to therapies, to try to prolong the most aggressive symptoms and to delay the use of a wheelchair.
Before knowing how the different therapies work, it is necessary to understand how, from a medical perspective, the phases of a patient with muscular dystrophy are divided.
- 1st or initial phase : the patient has moderate physical disability, with mild or minimal symptoms;
- 2nd or intermediate phase : in this phase, the patient already shows difficulties in daily physical activities, such as getting up from the chair, going up and down stairs and walking without difficulty or independently;
- 3rd phase: it is the most severe phase of the disease, in which the degeneration caused by dystrophy causes the patient’s inability to walk without the use of a wheelchair and has other clinical complications, such as cardiovascular or respiratory disorders.
Know some treatments available for the patient with muscular dystrophy:
Physiotherapy
This is a treatment present in several pathologies and, in this case, it can be an excellent aid for living with muscular dystrophy.
Physiotherapy can contribute to the mastery of movements, in addition to helping in the coordination and balance that the disease degeneration causes.
Among the various benefits it proposes, we can mention the following for these patients:
- It makes it possible for muscle weakness to be delayed, especially in the pelvic area and the shoulder girdle;
- Prevents fatigue;
- Preserves muscles from shortening;
- It promotes contraction of the respiratory muscles, helping in the control of related diseases.
The physiotherapist should direct the procedures according to the age group and the stage they are in the disease.
What can be interesting and should be explored, is the way these professionals can work the movements in a more playful and fun way, so that children, especially, can enjoy physical therapy.
There are some types of physiotherapy: motor physiotherapy, respiratory physiotherapy and hydrotherapy. Get to know:
Hydrotherapy
Hydrotherapy is a form of physical therapy treatment that can be used for various types of dysfunctions.
In muscular dystrophy, the patient can benefit both from the benefits to the body – such as pain relief – as well as find an activity that gives him pleasure in this therapy.
As it is an activity performed in groups and in the water, it can be very pleasant for children, who will not see therapy only as a treatment for the disease, but will even see it as a game and a relief for the difficulties they face with this condition. .
Some children, still, are unable to exercise some movements in other conditions, in the water, this becomes possible.
Motor Physiotherapy
The role of motor physiotherapy in the treatment of muscular dystrophy is to help the patient to conserve his muscular strength and allow him to have control over his movements, to be more independent.
Its benefits are associated with the mobility and functionality of the individual with muscular dystrophy. With this type of physiotherapy, what is developed is the patient’s ability to do day-to-day tasks alone.
The proposed exercises can be both passive and active, being free isometric or stretching.
Some of the activities proposed by the physiotherapist may include playing with a wooden dummy, for the contraction of a specific muscle or muscle group, and also the use of therapeutic balls. The associated benefits are:
- Improvement in coordination;
- Helps in strengthening muscle tone;
- Provides better balance;
- Strengthens the region of the scapular and pelvic girdle;
- Improves spine alignment and flexibility;
- Stimulates joint proprioceptors and mechanoreceptors.
Respiratory fisioterapy
One of the main complications of muscular dystrophy is breathing difficulties caused by muscle degeneration and weakness.
Therefore, the sooner the patient begins treatment with respiratory physiotherapy, the better the disease progression can be to delay these symptoms.
In practice, physiotherapy works so that the patient does not have, or has a reduced form, bronchial obstruction, to prevent and treat atelectasis and hyperinflation.
In addition, it helps in the treatment and prevention of structural damage, restoring the respiratory system so that there is no loss of elasticity and that it does not have, for example, lesion scars.
Some exercises that the patient can practice in this type of therapy can include diaphragmatic breathing, murmurs and intercostal exercises, where the patient stimulates and presses the rib region while taking a deep breath.
Among these exercises there are some very simple ways, such as sucking in a flower and blowing out a candle lying on its back, with the back at 45º of inclination.
Occupational therapy
Within the treatment options for dystrophic people, an alternative is occupational therapy. It offers a range of possibilities, such as kinesioactivity, use of prostheses and adaptations, therapeutic recreation and also include the participation of the family.
With prostheses, for example, the therapy aims to stimulate the patient’s independence, so that he can perform everyday tasks more easily.
The most recreational therapeutic activities, such as paintings, collages, drawings and other games, seek to promote the child’s cognitive, social and affective development.
In addition, in some cases, therapists are advised to know the patient’s family environment.
In this way, this professional is able to adapt the treatment to the environment in which he lives, advising those responsible for the patient on how to make that environment the most appropriate to the child’s needs.
Artificial respiration
Many patients have respiratory disorders as a complication. In such cases, treatment can be performed using artificial respiration devices, known as BIPAP or VPAP.
They are non-invasive bilevel devices that generate air flow, providing pressure to stimulate inhalation and exhalation.
BIPAP, from the English Bi-level Positive Airway Pressure, is the popular name given to the various types of devices in this line.
They help patients suffering from sleep apnea by improving oxygenation at night.
In general, they are used only during sleep, but in severe cases, it is possible that the patient has to constantly use one of these machines to breathe better.
How to prevent
There is no way to prevent muscular dystrophy after birth. Fortunately, during pregnancy, there are ways for the mother to prevent the child from developing the disease.
For this, genetic counseling is done. The pregnant woman must, in these cases, perform a DNA test to investigate whether there is the presence of a defective gene. If there is a family history, this procedure is highly recommended.
Therefore, women with the gene can opt for preconceptional medical procedures that increase the chances of having a female baby.
Medicines
Within the treatment for muscular dystrophy, there is no consensus on the use of medications. In some cases, corticosteroids are used to delay muscle degeneration, such as and in Duchenne muscular dystrophy.
In this specific type of disease, corticosteroids can contribute significantly to the strengthening of muscles, to reduce the risks of scoliosis and cardiac and pulmonary damage.
Although it can cause some side effects such as facial swelling and weight gain, the results of clinical tests have shown that corticosteroids are possibly great allies in the fight against DM.
However, for this treatment to become something viable, it is necessary that the patient has a close monitoring of the responsible doctor , so that there is a control of the possible side effects, which must be less than the benefits of stopping muscular dystrophy.
In Duchenne muscular dystrophy, prednisone-type corticosteroids are the most used. Some examples are:
- Prednisone ;
- Deflazacort;
- Corticorten;
- Meticorten ;
- Predcort.
Read more: Prednisone: what are the side effects?
Attention!
NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.
Contraindicated drugs
There are some restrictions on the medications these patients should not take. Find out which ones:
Inhalation anesthetics
Dystrophic people should avoid using inhaled anesthetics, as these drugs can cause muscle necrosis. With this, the cell ends up releasing large amounts of potassium in the bloodstream, which can lead to cardiac arrest.
With the use of these anesthetics, creatine kinase (CK) and myoglobin are also released into the blood, which can cause kidney damage.
These drugs are derived from halothane and depolarizing curarizers (muscle blockers) with suxamethonium, commonly used in general anesthesia.
Intravenous anesthetics
In comparison with inhaled anesthetics, intravenous anesthetics are safer. However, they can still cause some cardiac changes, due to the depressant effect of barbiturates and propofol.
When the patient needs to receive this type of anesthetic, Hypnomidate and Midazolam are the most recommended.
Narcotics
Dystrophic people should not use narcotics, especially injectable drugs (parenterally).
Because they have a depressant effect, they can cause serious complications for the respiratory system. Even morphine should be avoided.
Statins
Statins are drugs used to treat cholesterol and to prevent atherosclerosis , a chronic vascular disease.
They can be dangerous for dystrophic people because it is a drug that has the side effect of myositis, which is the presence of muscle symptoms that increase the amount of the CK enzyme.
In addition to causing inflammation of the muscles, it can further worsen the weakness caused by muscular dystrophy.
AZT
This is a drug used to treat AIDS patients . Because they induce rhabdomyolysis, that is, a syndrome that causes muscle cell death, they should not be administered by dystrophic patients.
Living together
Receiving the diagnosis of a disease such as muscular dystrophy is much more than recognizing an illness of the body, as this is a picture that also affects the psychic issues of the patient and family.
However, because it has no cure and, in most cases, it manifests itself during the first years of life, it can have a greater weight.
Many patients and their caregivers need to deal with the idea of reduced life expectancy and, in many cases, the fact that they cannot walk anymore.
In this coexistence, the support of a professional such as psychologist or psychiatrist is essential to be able to digest this information and move on as best as possible with life, understanding the limitations that the disease brings and joining forces to be able to face obstacles.
It is important to discover the activities that give you pleasure and enjoy those moments with the people who really matter.
Family members, who also suffer from the disease, need to understand the importance for the patient to feel independent.
food
There is no evidence that a specific diet is able to slow the progression of muscular dystrophy, but maintaining a healthy diet is always essential.
Dystrophy, in some patients, can also end up damaging the muscles that aid the digestive process, such as the jaw muscles.
This can affect patients, making it difficult for them to eat and chew and eat during meals.
From this difficulty, the patient may be eating insufficiently or even failing to ingest all the necessary nutrients.
To avoid complications such as low weight, heartburn , constipation or overweight, it is important to have a follow-up with a nutritionist. In more severe conditions, the patient may need to use a feeding tube.
Changes at home and at work
As patients with muscular dystrophy usually have loss of mobility as a complication, it is necessary to make some changes at home, and in cases of muscular dystrophy in adults, changes at work.
Thus, family members will have to rethink how the patient’s mobility will be so that he can move freely around the house with a wheelchair and if he will be able to reach the objects he needs for daily life, such as personal hygiene objects, without having to depend from other people.
In the case of patients who developed muscular dystrophy in adulthood, they may need to learn new jobs.
For patients who need a wheelchair, there are possibilities for motorized chairs and other objects adapted to the degree of the disease that the patient is in.
Psychological monitoring
It can be beneficial for the patient, during the coexistence with muscular dystrophy, to have the accompaniment of a professional like the psychologist, especially in the beginning.
Because there is no cure, it can be more difficult to accept, immediately, the difficulties and complications that the disease causes.
However, it is essential that the patient seeks to lead his life like any other person, attending school, seeking to find activities that stimulate him.
For family members, it can also be of great help to seek this support from trained professionals.
Complications
The main complications that the types of muscular dystrophy present are related to respiratory and cardiac problems, which are manifested as effects caused by muscle degeneration and the weakness that the disease promotes in the patient.
Breathing problems
It is common for patients with muscular dystrophy to develop respiratory problems as the disease progresses. These complications are related to atrophy of the respiratory muscles. Some conditions that can occur are:
- Airway obstruction during sleep;
- Stiffness of the rib cage;
- Difficulty coughing;
- Difficulty in breathing;
- Fatigue;
- Respiratory failure;
- Lung problems;
- Reduction of the ventilatory impulse of the Central Nervous System.
Heart problems
Muscular dystrophy can make cardiac muscle function less. Thus, the patient may suffer from heart failure and arrhythmias.
Scoliosis
Scoliosis is a deviation that occurs in the spine, forming an ‘S’ or ‘C’ in the spine of the person with the disease, that is, it makes the spine out of alignment.
It can happen for several causes and one of them is due to neuromuscular diseases, such as muscular dystrophy.
Muscle contracture in the hip, knee and ankle
When a muscle undergoes an incorrect contraction and fails to return to its natural state, this is called muscle contraction.
This is a common condition within the framework of muscular dystrophy, but within the complications, these contractures are more severe.
It is common for the patient to have contractures in flexion of the hips, knees and ankles, impairing his ability to move.
Low life expectancy
Unfortunately, for patients with muscular dystrophy, life expectancy is still very short.
For all these complications that the patient may suffer, currently, it is expected that dystrophic people will be able to live up to 25 years old, and up to 35 years old in developed countries.
Prognosis
Muscular dystrophy, in its more than 30 different types of the same complication, is a serious disease with no cure. Patients in this condition, in a few decades ago, could not expect great advances in medicine in terms of treatment and even in cure.
However, it is possible to be more optimistic about the future of these patients. Thanks to advances in the field of genetics and molecular biology, for example, it is possible to identify whether the asymptomatic woman has the altered gene or not and whether future children could develop the disease.
There is also research carried out with embryonic stem cells that are beginning to demonstrate their first steps towards the evolution of the prognosis of muscular dystrophy.
These embryonic stem cells are responsible for the formation of all the cells in our body. It is believed that, in the future, it will be possible to use them to renew dead cells from any part of our body through a treatment with these cells.
In the case of diseases such as muscular dystrophy, embryonic stem cells could replace cells in muscle that are degenerating. In this way, the disease would be regressed or controlled.
What makes these cells so special, being superior to adult stem cells, is that adult stem cells can only replace the cell to which they belonged. That is, if it is removed from the kidney, it would only be possible to be replaced by a degenerated cell of the same organ.
For this situation to be possible and for all patients who depend on these advances to be benefited, it is necessary that professionals have a lot of incentive to research, in massive volume.
It is not possible to predict when this treatment will reach the patients and if it will, in fact, have the success expected by the researchers. However, it is an open window for patients and healthcare professionals.
Common questions
Muscular dystrophy can raise many doubts. Get to know some of the most frequent ones:
Is muscular dystrophy a contagious disease?
No , muscular dystrophy, in its more than 30 specific types, is not a contagious disease, but a genetic condition.
Therefore, it cannot be passed through physical contact or sexual intercourse. What determines whether the person will have any type of muscular dystrophy is a genetic and hereditary issue.
In rarer cases, it is related to genetic mutation, unrelated to the parents’ genes. Even in these cases, it is not transmissible.
Can children with muscular dystrophy attend school?
Yes , children who suffer from this disease should attend school and be encouraged to lead normal lives, just like anyone else.
An extremely protective treatment is not considered healthy for their development, no matter how much the guardians intend to care for these children.
Living with other children and going to school is a fundamental routine for them to learn and interact socially.
What will be different are some necessary adaptations to the child’s physical conditions, such as a school with accessibility for wheelchair users, for example.
What is the difference between muscular atrophy and muscular dystrophy?
It is common for people to confuse muscle atrophy and muscular dystrophy. Atrophy, while being a specific pathology, having different causes, is also one of the symptoms of dystrophy.
The main characteristic of muscle atrophy is also weakness, being also a progressive disease, which prevents the patient from performing some activities. However, the causes are more varied.
Unlike muscular dystrophy, which is a genetic disease, atrophy can be caused by aging, lack of physical exercise, compression of the affected organ or tissue, insufficient hormonal stimuli, lack of essential nutrients for the muscle, reduced blood supply and also for genetic reasons.
Among the complications that this patient may suffer are also scoliosis, breathing problems and contractures.
Treatment consists of physiotherapy sessions and, in some cases, vitamin intake .
Therefore, the main difference between these two conditions is that, depending on the cause, atrophy can be cured, while muscular dystrophy is not yet.
Can muscular dystrophy happen in other species?
Yes , muscular dystrophy can also occur in other species, such as horses and dogs.
There is even research that has raised great expectations regarding the treatment of the disease based on the condition of these animals.
This is the case of a Golden retriever dog diagnosed with Duchenne muscular dystrophy, but who did not have the degenerative symptoms of other dogs with the same disease.
Considering the fact that these animals present a picture very similar to the muscular dystrophy that affects humans, this phenomenon, in particular, caught the attention of researchers.
The research, in question, was elaborated by the team of the Institute of Biosciences of the University of São Paulo (USP), with the coordination of geneticist Mayana Zatz.
Observing the case of this dog and one of its male puppies, they sought an answer to understand why, even with a diagnosis of DMD and dystrophin deficiency, the disease did not progress.
What the research found was the presence of a gene called Jagged1 . The conclusion of the study was that the presence of this gene was able to compensate for the progression of the disease, which is a big step in this field, considering that muscular dystrophy has no cure.
Muscular dystrophy is a name that encompasses several types of hereditary muscle disorders, and currently has more than 30 types of dystrophies.
The life expectancy of these patients is still very low and the prognosis is still under development, so that a cure or treatment can be found to stop the degeneration of the disease.
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