WHAT IS GNB1 SYNDROME?
WHAT IS GNB1 SYNDROME?
Find out a little more about this disease. How to detect it and its symptoms.
DIAGNOSIS
GNB1 Syndrome is caused by changes in the GNB1 gene. These changes can prevent the gene from working as it should. GNB1 plays a key role in cellular communication and is important for early development, learning and memory, as well as other cellular activities. Genes are fragments that contain the instructions to form a protein. Changes that occur in genes are called mutations, which can cause the protein to not be formed or to be abnormal. Mutations in the GNB1 gene can affect the G protein in several ways. The G protein plays a crucial role in transmitting signals within cells, so a mutation in the GNB1 gene can alter its normal function. This can result in changes in the cell signaling pathway, which in turn can have effects on different biological processes.
Symptoms
Many people with GNB1 encephalopathy have:
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Intellectual disability
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Low muscle tone or hypotonia
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Brain disorders
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Seizures/Epilepsy
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Movement disorders
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Dystonia speech
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Deficit Eye disorders
It is important to note that symptoms can vary widely from person to person, even if they share the same genetic mutation.
How to detect it
Normally, before getting a genetic test, children undergo a battery of prior tests such as CMR1, EEG2, transfontanelar ultrasound, cranial X-ray3, etc. As a definitive test to detect this mutation, the complete exome is performed.
Cure and treatments
Currently there is no cure nor a specific treatment. There are different types of therapies that help children to improve themselves and feel more fulfilled. These therapies are made up of physiotherapy, speech therapy, occupational therapy... Innovative advances are being made in the field of GENE THERAPY (through gene replacement), so we are a little closer to finding a cure.
Registro
de pacientes
GNB1.
