- Symptoms of Congenital Myasthenia
- How the diagnosis is made
- Treatment for Congenital Myasthenia
- Can congenital myasthenia be cured?
Congenital Myasthenia is a disease that involves the neuromuscular junction and therefore causes progressive muscle weakness, often leading the person to have to walk in a wheelchair. This disease can be discovered in adolescence or adulthood and depending on the type of genetic alteration that the person has, it can be cured with the use of medications.
In addition to the medications indicated by the neurologist, physiotherapy is also needed to recover muscle strength and coordinate movements, but the person can walk normally again, 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 frequent in people in the same family.
Symptoms of Congenital Myasthenia
Symptoms of Congenital Myasthenia usually appear in babies or between 3 and 7 years of age, but some types appear between 20 and 40 years, which can be:
In the baby:
- Difficulty in breastfeeding or bottle-feeding, easy choking and little force to suck; Hypotonia that manifests itself through weakness of the arms and legs; Drooping eyelid; Joint contractures (congenital arthrogriposis); Decreased facial expression; Difficulty breathing and tips of purple fingers and lips; developmental delay to sit, crawl and walk; in older children it may be difficult to climb stairs.
In children, adolescents or adults:
- Weakness in the legs or arms with tingling sensation; Difficulty walking with the need to sit down to rest; There may be weakness in the eye muscles that leave the eyelid drooping; Tiredness when making small efforts; There may be scoliosis in the spine.
There are 4 different types of congenital myasthenia: slow channel, low affinity fast channel, severe AChR deficiency or AChE deficiency. Since congenital slow-channel myasthenia can appear between 20 and 30 years of age. Each type has its own characteristics and the treatment can also vary from one person to another because not all have the same symptoms.
How the diagnosis is made
The diagnosis of Congenital Myasthenia must be made based on the symptoms presented and can be confirmed by tests such as CK blood test and genetic tests, antibody tests to confirm that it is not Myasthenia Gravis, and an electromyography that assesses the quality of the contraction muscle, for example.
In older children, adolescents and adults, the doctor or physical therapist may also perform some tests in the office to identify muscle weakness, such as:
- Look at the ceiling for 2 minutes, fixedly and observe if there is an aggravation of the difficulty in keeping the eyelids open; Lift the arms forward, up to shoulder height, maintaining this position for 2 minutes and observe if it is possible to maintain this contraction or if there is a fall of the arms; Raise the stretcher without the help of the arms more than 1 time or get up from the chair more than 2 times to see if there is more and more difficulty to perform these movements.
If muscle weakness is observed and it is difficult to perform these tests, it is very likely that there is a generalized muscle weakness, showing a disease such as myasthenia.
To assess whether speech was also affected, you can ask the person to quote the numbers from 1 to 100 and observe if there is a change in the tone of the voice, vocal failure or an increase in the time between the quote of each number.
Treatment for Congenital Myasthenia
Treatments vary according to the type of congenital myasthenia that the person has but in some cases remedies such as acetylcellinesterase inhibitors, Quinidine, Fluoxetine, Ephedrine and Salbutamol may be indicated under the recommendation of the neuropediatrician or neurologist. Physiotherapy is indicated and can help the person feel better, fighting muscle weakness and improving breathing, but it will not be effective without medications.
Children can sleep with an oxygen mask called CPAP and parents must learn to provide first aid in case of respiratory arrest. Know what to do if your baby stops breathing.
In physiotherapy, the exercises must be isometric and have few repetitions, but they must cover several muscle groups, including the respiratory ones and are very useful to increase the amount of mitochondria, muscles, capillaries and decrease the lactate concentration, with less cramps.
Can congenital myasthenia be cured?
In most cases, congenital myasthenia cannot be cured, requiring treatment for life. However, medicines and physiotherapy help to improve the person's quality of life, fight fatigue and muscle weakness and avoid complications such as atrophy of the arms and legs and the suffocation that can arise when breathing is impaired, which is why, life is essential.
People with Congenital Myasthenia caused by a defect in the DOK7 gene can have a great improvement in their condition, and can apparently be 'cured' with the use of a medication commonly used against asthma, salbutamol, but in the form of tablets or lozenges. However, you may still need to do physical therapy sporadically.
When the person has Congenital Myasthenia and does not undergo the treatment, they will gradually lose strength in the muscles, become atrophied, needing to remain bedridden and may die from respiratory failure and that is why clinical and physiotherapeutic treatment is so important because both can improve person's quality of life and prolong life.
Some remedies that worsen the condition of Congenital Myasthenia are Ciprofloxacin, Chloroquine, Procaine, Lithium, Phenytoin, Beta-blockers, Procainamide and Quinidine and therefore all medication should only be used under medical advice after identifying the type that the person has.
