Metabolic diseases of muscle – how can you tell if they affect you?

Metabolic diseases of the muscles are metabolic myopathies that act as abnormalities of the muscles and have as the result skeletal muscle dysfunctions. These health issues were discovered quite late, in the 20th century. There are multiple metabolic myopathies people are dealing with, and every one of them seems to be caused by a different genetic defect. In order for a person to move, they need to have functional muscles. But muscles can function properly only if they take the needed amount of energy from the body.

Metabolic diseases of the muscles appear when chemical reactions interfere in the body’s process of taking energy from food. When the levels of energy drop, people experience exercise intolerance and muscle weakness, and they are not able to move properly, because they are in pains. Very few cases of myopathies are not caused by lack of energy, but by unused molecules that remain inside the muscles. When this happens patients experience cells damage and chronic weakness.

Why do people suffer from metabolic diseases of muscle?

Inside the body of a healthy person who does not suffer from this issue, the molecules resulted from the food they ate are broken down inside the cells. If you are healthy your cells will be able to produce energy, because inside every one of them there is mitochondria that processes the molecules came from food. If you suffer from one of the multiple types of myopathy, then some of the molecules derived from food are processed before getting to the cells, and your muscles do not receive the needed energy to function properly.

Do you have myopathy symptoms?

The persons who experience these metabolic diseases of muscles have symptoms as respiratory issues, myoglobinuria, cardiac issues, exercise intolerance and muscle weakness.

There are high chances the patients who suffer from acid maltase deficiency, carnitine deficiency or debrancher enzyme deficiency to also experience heart issues.

If you notice that you are not able to perform some exercises from your training, because you feel tired, then you should see a doctor, because you may suffer from a type of myopathy. Different disorders lead to intolerance for different exercises. If you have this health issue you will also experience painful muscle pains during training.

Muscle weakness is the result of exercise intolerance and loss of strength as a result of aging. Depending on the type of metabolic disease of muscle you experience the degree of weakness you feel will vary. In the majority of cases the patients who experience this symptom do not get to use a wheelchair.

If you suffer from myogloburina then there will be myoglobin present in your urine. When a person experiences acute muscle breakdown, the proteins from their muscles are released into their blood and from there into their urine. If you do not treat this symptom, then you may experience kidney damage on a long term.

Your respiratory muscles can be affected by debrancher enzyme deficiency or acid maltase deficiency. If you suffer from one of these disorders, and you do not treat it, you may need mechanical respiratory assistance. In order to get the right diagnose you should consult an experienced doctor.

What is the treatment for the muscular dystrophy?

Muscular dystrophy is not one, but multiple health issues that lead to loss of muscle mass and muscle weakness. The persons who suffer from this condition experience mutations that prevent the production of proteins. In order your muscles to properly function, they need proteins. There are multiple types of muscular dystrophy, and their signs and symptoms differ from a case to another. Therefore it is quite difficult people to be diagnosed with this health issue. In order to diagnose this issue, there have to be made multiple tests and physical exams. Also, the specialist will analyze the medical history of the family and will recommend a muscle biopsy. The process of diagnosing implies nerve conduction tests, genetic testing, muscle biopsy and blood enzyme tests. The role of the tests is not only to diagnose the patient but also to show what muscle proteins are abnormal or missing.

Once being diagnosed with this health condition, the sad news is that you will never find a cure for it, but there are medications and therapy that can improve your lifestyle. Researchers try to find treatments to insert working dystrophin gene into patients’ muscles, but until then, it is important to know what treatment options you have.

What medications can be recommended?

Depending on your particular health state the doctor can prescribe you one of the following medications:

Eteplirsen – it is the first treatment approved by FDA to be used for dealing with Duchenne muscular dystrophy. It is important to note that it was approved conditionally, and it is continually checked to see if it is effective. Although it is considered a safe variant, there are no studies to show how effective the medicine is. It does not cure the issue as the organization Muscular Dystrophy Canada showed, but it improves muscle strength.

Corticosteroids – It is stated that this treatment has the role to delay the progression of the health condition. Also, it can help your muscles become stronger. Studies show that a prolonged use of corticosteroids can lead to weight gain. This may weaken your bones on time, so it is advisable to ask the doctor if it is the right treatment for you.

Heart medications – there are cases when muscular dystrophy affects the muscles of the heart, and in this situation, you should check if you should have heart medications.

You can use therapy to improve your health state

Organisations as Muscular Dystrophy Association promote therapy as part of the treatment. Therapy has an important role in improving your lifestyle, so you should not skip this part. Your flexibility can be restricted by muscular dystrophy, so it is recommended to perform stretching exercises. You can keep your joints flexible if you perform motion exercises.

In order to prevent contractures, it is recommended to wear braces because they can improve your mobility and they offer support to your muscles if they are weakened by the disease.

There are cases when patients need wheelchairs, walkers or canes in order to move. There is no other way to help them be independent. In case the respiratory muscles are weakened, then breathing assistance may be required.

Neuromuscular diseases – types, symptoms and management strategies

Neuromuscular disorders are those types of disorders that affect the neurons involved in the voluntary movement of the muscles. This type of diseases appears when the neurons with functions in movement become damaged or die. Subsequently, the muscles will become weaker and less capable to sustain a normal movement. Below are some of the most popular neuromuscular diseases, their symptoms, and some management strategies.

Amyotrophic Lateral Sclerosis

ALS is a neuromuscular disease in which the neurons in the brain and spinal chord are attacked. While at first, the patient will experience slight trouble walking and moving, the symptoms accentuate in time, without a prospect for a cure. Some of the most common symptoms of ALS are described below:

  • Difficulties walking and running;
  • Speech issues;
  • Writing difficulties.

The first symptoms usually appear in people aged between forty and sixty, with a prevalence in men. While genetical factors seem to favor the appearance of the disease, in some cases, people without any medical history in the family will get it.

In late stages of the disease, the patient becomes unable to move. Lung failure is expected to appear, as the chest muscles become unable to move. While a breathing machine has the potential to help and prologue the patient’s life, most will die due to a respiratory failure.

Living with Amyotrophic Lateral Sclerosis is manageable, until the more accentuated stages of the disease. Occupational therapy and getting involved in minor daily activities, such as buttoning a shirt or using the toilet themselves, might help the patients delay the evolution of the disease. Most of the experts in ALS emphasize the importance of occupational therapy in ALS sufferer.

Multiple Sclerosis

Another common neuromuscular disease, multiple sclerosis attacks the same areas of the neurological system: the brain and spinal cord. However, this disease attacks the myelin, a protective layer in neuron’s structure. This will either slow down or block entirely the electrical impulses between the neurons and muscles. Some of the most common symptoms in the case of MS sufferers are:

  • Muscular weakness;
  • Visual disruptions;
  • Balance and coordination issues;
  • Pins-and-needless, numbness, prickling sensations in the limbs;
  • Memory and cognitive issues.

While some voices claim that MS could be an autoimmune disease, nobody truly knows its causes and triggers. While ALS was found predominantly in men, MS seems to affect more women, with the debut in individuals as young as 20.There is no testing available to assess the presence of MS, medical staff putting a diagnose based on the symptoms above. Just like in the case of ALS, there is no cure for MS, but occupational therapy might help the patient function with more ease for longer intervals. Also, medical treatment is oftentimes prescribed. Just like in the case of ALS, MS leads to severe breathing issues.

These are two of the most common neuromuscular diseases. While these disorders don’t have a cure, occupational therapy and attending support groups may help the patient raise the living standard. Medicine may help in some cases, but it doesn’t cure the diseases, unfortunately.

An overview of different types of ataxias

Ataxia is an affection that causes the lack of coordination in a patient. People who suffer from any type of ataxia are not able to control their muscles, they encounter issues with stability and they even face problems when they have to walk. Ataxia can affect the whole body or only parts of it such as the fingers, hands, arms, or feet. Sometimes, ataxia can affect the movement of the eyes or even the patient’s speech. Usually, ataxia is a symptom of diseases or degenerative changes in the central nervous system, but it can become a disease on its own. There are two types of ataxia that are considered diseases: hereditary and sporadic. When no other cases of ataxia are present in a family’s medical history, but a member suffers from ataxia, the disease is called sporadic; otherwise, it is hereditary. Sporadic ataxia occurs only in adulthood, while hereditary ataxia can appear early in childhood.

The cause of ataxia is represented by cerebral cell atrophy. The part of the brain responsible for coordinating muscle movements and maintaining posture/balance is called the cerebellum and it is located in the back of the head. Any trauma or degeneration to this area can lead to ataxia. It can also be triggered by abnormal genes that produce proteins which affect the nerve cells in the cerebellum. These proteins can affect other parts of the nervous system as well. The nerve cells that were damaged in the process will start functioning incorrectly. As a result, the muscles of the patient become unreceptive to the brain’s orders, so the person can no longer coordinate his or her movements.

Both sporadic and hereditary ataxia cause the following symptoms in a patient:

  • The lack of coordination
  • Unclear speech
  • Encountering issues when walking
  • Difficulty eating
  • Impossibility to write
  • Slow eye movement

Other medical conditions can also cause the aforementioned symptoms. This is the reason why it is highly important to consult a physician for a clear diagnosis. The physical examinations and screenings required for determining if a patient is suffering from ataxia include:

  • Blood tests
  • X-rays (internal tissues, bones)
  • MRI tests
  • Genetic tests (for chromosomal abnormalities)

The sudden apparition of ataxia can be triggered by trauma to the head, stroke, brain tumors, congenital abnormalities, infectious diseases, cardio-respiratory disorders and so on. The onset of ataxia can be rushed by hypothyroidism, vitamin deficiencies, certain medications, sclerosis, syphilis etc. Currently, there is no existent cure for hereditary ataxia, although researchers are trying their best to find an appropriate solution for the problem. There are no drugs able to treat the symptoms generated by hereditary ataxia. The only measurement patients can take is adapting the environment they are surrounded by to the lack of coordination and stability they struggle with every day. The goal is to maintain the independence of a person for as long as possible. Medical devices such as walking aids and wheelchairs can be helpful, while physical therapy and speech therapy can improve a part of the symptoms.

Muscular dystrophies – definition, types, causes and symptoms

Muscular dystrophy means a group of progressive muscular diseases without a pathology. These sorts of diseases affect the muscles and eventually produce permanent degeneration of the muscle fibers. Several studies in molecular biology have shown that the main cause of the apparition of muscular dystrophies has to do with genetic defects. These defects sit behind muscle weakness and pseudohypertrophy. Sometimes, mental affections can occur as a side effect of muscular dystrophies because the protein that’s affected genetically it’s also found in the brain.

Because all muscular dystrophies are progressive, the muscle strength will be compromised gradually. The cardiopulmonary function is affected as well. In the same time, once the muscles around the spine become weaker, the patient might suffer from a faulty posture which will later lead to spinal deformities and a deficiency in maintaining balance. These effects compromise the patient’s quality and duration of life. Sooner or later, the patient will be constrained to a wheelchair, not being capable to move. At this point, a deterioration in the functionality of the patient’s lungs is visible. If the patient previously suffered from cardiopulmonary conditions, this deterioration may cause death. This is the reason why patients suffering from muscular dystrophies should follow orthopedic treatments for as long as possible.

The most common muscular dystrophy diseases include:

  • Duchenne (DMD)
  • Becker’s
  • Emery-Dreifuss
  • Facio-scapulo-humeral
  • Distal
  • Ocular-pharyngeal
  • Myotonic
  • Congenital
  • Limb-girdle

The causes behind muscular dystrophies are various. They are usually related to a pathological genetic code for different proteins found in the muscle (e.g. dystrophin). The lack of such proteins causes cellular instability, thus producing a progressive loss of intracellular structures. These effects can further lead to elevated levels of the CPK (creatine phosphokinase) enzyme. In dystrophies such as Duchenne and Becker, muscle cells die gradually, and the space left behind is filled with macrophages. This is the definition for pseudohypertrophy. Sometimes, muscular dystrophies are caused by the alteration of glycoproteins in the body (encoded in other chromosomes than the regular chromosome X).

The symptoms of muscular dystrophies are not usually noticeable from birth. In the case of Duchenne muscular dystrophy, doctors will recommend early screenings only if another case of muscular dystrophy is present in the family. Muscular dystrophies start to become noticeable anywhere between childhood and adulthood. The most frequent symptoms include:

  • Loss of muscle mass
  • Visible difficulty when walking
  • Instability
  • Pain in the muscles
  • Limited movement
  • Breathing difficulties
  • Patella syndrome
  • Scoliosis

Duchenne muscular dystrophy is considered a terminal disease, as its progression is fatal for the patient due to cardiopulmonary failure. Respiratory failure can be caused by nocturnal or hypoxic hypoventilation or a respiratory infection that progresses too fast to be treated. Becker’s is similar to Duchenne, but the symptoms are less severe, and they start developing later in a patient’s life. Each type of muscular dystrophy triggers different symptoms depending on the area that’s affected. In Emery-Dreifuss muscular dystrophy, the biggest risk for a patient is represented by atrioventricular blocks. As for facial-scapulo-humeral dystrophy, the disease causes dysarthria and dysphagia. It is important that the patient runs a CPK screening to find out the exact type of muscular dystrophy he is suffering from. Symptoms alone cannot determine the type of the disease.