Congenital myasthenia is a disease that involves the neuromuscular junction and therefore causes progressive muscle weakness, which often leads the person to walk in a wheelchair. This disease can be discovered in adolescence or adulthood and depending on the type of genetic alteration the person can be cured with the use of medications.
In addition to the medications indicated by the neurologist, physiotherapy is also necessary to regain muscle strength and coordinate movements, but the person can walk again normally, without the need for a wheelchair or crutches.
- Congenital myasthenia is not exactly the same as myasthenia gravis because in the case of myasthenia gravis.
- The cause is a change in the person’s immune system.
- While in congenital myasthenia.
- The cause is a genetic mutation.
- Which is common in people in the same family.
Symptoms of congenital myasthenia usually appear in infants or between the ages of 3 and 7, but some types appear between the ages of 20 and 40, which may include:
In the baby
In children, adolescents or adults:
There are 4 different types of congenital myasthenia: slow channel, low affinity fast channel, severe AChR deficiency or AChE deficiency. Slow-channel congenital myasthenia can occur between the ages of 20 and 30. Each type has its own characteristics and treatment can also vary from person to person, as not all have the same symptoms.
Diagnosis of congenital myasthenia should be made based on the symptoms presented and can be confirmed by tests such as CK blood tests and genetic tests, antibody tests to confirm that it is not myasthenia gravis and an electromyography that evaluates the quality of muscle contraction, for example.
In older children, adolescents, and adults, your doctor or physical therapist may also perform certain tests in the office to identify muscle weakness, such as:
If muscle weakness is observed and these tests are difficult, it is very likely that there will be widespread muscle weakness, showing a disease such as myasthenia.
To assess whether speech has also been affected, you can ask the person to cite numbers 1 through 100 and to see if there is a change in the tone of the voice, a vocal failure, or an increase in time between the mention of each. Number.
Treatments vary depending on the type of congenital myasthenia of the person, but in some cases remedies such as acetylcholine inhibitors, quinidine, fluoxetine, ephedrine and salbutamol may be indicated on the recommendation of the neuropediatrician or neurologist. Physical therapy is indicated and can help the person feel better, combat muscle weakness and improve breathing, but it will not be effective without medication.
Children can sleep with an oxygen mask called CPAP and parents should learn to provide first aid in the event of respiratory arrest.
In physical therapy exercises should be isometric and have few recurrences, but they should cover several muscle groups, including respiratory, and are very useful for increasing the amount of mitochondria, muscles, capillaries and decreasing lactate concentration, with fewer cramps.
In most cases, congenital myasthenia is incurable and requires lifelong treatment. However, medications and physiotherapy help improve a person’s quality of life, combat tiredness and muscle weakness, and avoid complications such as atrophy and suffocation of arms and legs that can occur in case of breathing problems, so life is critical.
People with congenital myasthenia caused by a defect in the DOK7 gene may have a great improvement in their condition and can apparently be “cured” with the use of a commonly used asthma medication, salbutamol, but in the form of tablets or pills. However, you may still need to perform physiotherapy sporadically.
When the person has congenital myasthenia and is not being treated, he will gradually lose muscle strength, atrophy, stand bedridden and may die from respiratory failure, so clinical and physiotherapeutic treatment is so important because both can improve. quality of life and prolong life.
Some remedies that aggravate the condition of congenital myasthenia are ciprofloxacin, chloroquine, procaine, lithium, phenytoin, beta blockers, procanamide and quinidine. Therefore, all medications should only be used on medical advice after identifying the type of person.