What is congenital myasthenic syndrome?

They are a set of low-incidence genetic conditions that cause a nerve dysfunction that affects muscle movement, which produces weakness in the patient, among other symptoms.

Although it is not known exactly, it is considered that congenital myasthenic syndromes damage the presynaptic, synaptic, and postsynaptic neuronal processes, being one of the most common hereditary anomalies during childhood.

Congenital myasthenic syndromes are the most common neuromuscular transmission defects in childhood.

The symptoms will depend on the patient’s degree of involvement, but the most frequent symptoms, which vary from mild to moderate, are:

• Weakness.
• Hypotonia.
• Trouble breathing.
• Fatigue.
• Microencephaly.
• Seizures.
• Encephalopathy.
• Failure to thrive.
• Psychomotor delay.

In serious cases, the following may occur:

• Respiratory failure.
• Apnea.
• Anemia.
• Intellectual disabilities.
• Cataracts.
• Hypertrichosis.
• Arthrogryposis.
• Tremors.
• Papillary atrophy.
• Hearing loss.

The doctor will base their diagnosis on the existing symptoms and a physical and neurological examination, in addition to relying on:

• Blood tests.
• Genetic tests.
• Nerve conduction tests.
• Electromyography.

The treatment to follow will depend on the severity of the symptoms of each specific case, but its purpose will be to control the symptoms and avoid serious complications.

At the Neurology Center, a select group of highly trained and certified doctors in various neurological specialties is ready to assist you with the quality and warmth that characterizes us.

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