Spinal muscular atrophy (love): what it is, symptoms and treatment

Spinal muscular atrophy is a rare genetic disease that affects nerve cells in the spinal cord, responsible for transmitting electrical stimuli from the brain to the muscles, which causes the person to have difficulty or not be able to move the muscles voluntarily.

This disease is serious and causes atrophy and progressive muscle weakness. Initially the symptoms can affect only the legs, but then the disease starts to affect the arms, and finally the muscles of the trunk.

Although there is no cure for spinal muscular atrophy, it is possible to do the treatment to delay the development of the disease and improve the quality of life, allowing the person to be autonomous for longer.

Main symptoms

Symptoms of spinal muscular atrophy vary according to the type of disease:

Type I - severe or Werdnig-Hoffmann disease

It is a serious form of the disease that can be identified between 0 and 6 months of life, as it affects the baby's normal development, leading to difficulty holding the head or sitting without support. In addition, difficulty in breathing and swallowing are also common. Before 1 year of age the baby is unable to swallow and feed and breathing difficulties occur, requiring hospitalization.

Babies diagnosed with severe spinal muscular atrophy are only a few years old, and sometimes do not complete the 2nd year, but advanced treatments have increased life expectancy.

Type II - intermediate or chronic

Usually the first symptoms appear between 6 and 18 months and include difficulty sitting, standing or walking alone. Certain babies are able to stand with support, but are unable to walk, may have difficulty gaining weight and have difficulty coughing, with a greater risk of respiratory diseases. In addition, they have small fine tremors and may have scoliosis.

Life expectancy varies between 10 and 40 years of age, depending on other diseases that may be present, and the type of treatment that is performed.

Type III - mild, juvenile or Kugelberg-Welander disease

This type is lighter and develops between childhood and adolescence and, although it does not cause difficulty to walk or stand, it makes more complex activities like climbing or descending stairs difficult. This difficulty can get worse, until it is necessary to use a wheelchair. It is further classified as:

• type 3a: appearance of the disease before the age of 3, they are able to walk until the age of 20; type 3b: appearance after the age of 3, who can continue walking for life.

Over time, the person may have scoliosis and his life expectancy is indefinite, living close to normal.

Type IV - adult

There is no consensus as to when it is discovered, some researchers say it appears around the age of 10, while others speak around the age of 30. In this case, the motor loss is not very serious, neither the swallowing nor the respiratory system is very affected. Thus, milder symptoms such as tremors of the arms and legs are present, and life expectancy is normal.

How to confirm the diagnosis

The diagnosis is not easy and with the onset of symptoms the doctor or pediatrician may suspect a series of diseases that affect the motor system, in addition to spinal muscular atrophy. For this reason, the doctor may order several tests to rule out other hypotheses, including electromyography, muscle biopsy and molecular analysis.

How the treatment is done

The treatment of spinal muscular atrophy is done to control symptoms and improve the person's quality of life, as it is not yet possible to cure the genetic alteration that causes the disease.

To make the best possible treatment, a team of several health professionals, such as orthopedists, physiotherapists, nurses, nutritionists and occupational therapists, for example, may be necessary, according to the difficulties and limitations of each person.

The main forms of treatment used include:

1. Physical therapy treatment

Physiotherapy is very important for all cases of muscle atrophy, because it allows to maintain adequate blood circulation, avoid joint stiffness, decrease muscle loss and improve flexibility.

Lifting weights, doing exercises with rubber bands or practicing weight training exercises are some examples of what can be done in case of muscular atrophy. But these exercises must be guided by a physiotherapist in a physiotherapy clinic, for example, as they vary according to the limitation of each person.

In addition, electrostimulation devices can also be used to promote muscle contraction, as is the case with the Russian current, which is a great option to complement the treatment.

2. Use of equipment and occupational therapy

Occupational therapy is a great option to increase the quality of life in cases where it is difficult to move or do simple daily activities, such as eating or walking, for example.

This is because, in occupational therapy sessions, the professional helps the person to use some auxiliary equipment, such as special cutlery or a wheelchair, which allow them to perform the same tasks, even when the disease is limited.

3. Proper diet

Adequate nutrition is very important to ensure the development of those who suffer from muscular atrophy, especially in the case of children. However, many have difficulty chewing or swallowing, for example, and in these cases, the nutritionist can indicate the best foods and supplements to supply all the body's needs.

In addition, in many cases, it may even be necessary to use a feeding tube or a small tube that connects the stomach to the skin of the belly, allowing you to feed without having to chew or swallow. See how to use and care for the feeding probe.

Other treatment options

In addition to the previous treatment techniques, other types of treatment may also be necessary, according to the symptoms and limitations of each person. For example, in cases where the breathing muscles are affected, it may be necessary to use breathing apparatus that force air into the lungs, replacing the muscles.

In children with muscle problems near the spine, it may be necessary to undergo surgery to correct scoliosis, since the imbalance in the strength of the muscles can lead to the spine developing inappropriately.

A new alternative treatment is the use of the medicine Spinraza, which has already been approved in the United States and promises to reduce the symptoms of atrophy caused by changes in the SMN-1 gene. Understand what Spinraza is and how it works.

The treatment for spinal muscular atrophy is usually done with the use of medication, special food and physical therapy.

What causes muscle atrophy

Spinal muscular atrophy is caused by a genetic mutation in chromosome 5 that causes the lack of a protein, known as Survival Motor Neuron-1 (SMN1), important for the correct functioning of muscles. There are rarer cases where the genetic mutation occurs in other genes that are also related to voluntary movement of muscles.