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.