Question 1

What is the LMBRD2 gene mutation?

Accepted Answer

The LMBRD2 gene mutation is a genetic alteration that can affect the development and function of the body. This mutation is often associated with neurological disorders and a variety of symptoms. It is usually inherited in a de novo manner, meaning it can occur without a family history. LMBRD2.org is dedicated to providing information about this mutation, supporting families, and encouraging scientific research.

Question 2

What are the symptoms and consequences of this mutation?

Accepted Answer

Symptoms related to LMBRD2 gene mutations are severe and progressive. The main feature is intellectual disability, which affects all aspects of cognitive development and significantly impacts children's autonomy and quality of life.
Children with LMBRD2 mutations present:
 • Significant motor developmental delay: most children do not walk before 2-3 years of age. Once walking is achieved, progressive spasticity affecting the lower limbs leads to contractures and increasing limitation of motor independence.
 • Severe language impairment: many children have developed only a few words or no oral language at all, despite their age, which significantly impacts their social and educational integration.
 • Neurological manifestations: brain imaging reveals structural abnormalities including thinning of the corpus callosum, insufficient myelination, and in some cases, microcephaly. Several children experience epileptic seizures.
 • Progressive deterioration: some children experience regression of previously acquired skills, a particularly concerning evolution.
Due to the rarity of this mutation, the underlying disease mechanisms are still unknown. Our association works to raise awareness of these disorders, support affected families, and promote research to better understand and manage this condition.

Question 3

How is an LMBRD2 mutation diagnosed?

Accepted Answer

The diagnosis of the LMBRD2 mutation is typically made through genetic testing. If you suspect this mutation, it is important to consult a healthcare professional who can recommend a precise genetic test. Early diagnosis can help better understand the medical and support needs of affected individuals.

Question 4

How does the association help families affected by LMBRD2?

Accepted Answer

LMBRD2.org supports families by providing educational resources about the LMBRD2 mutation, facilitating connections with medical experts, and supporting scientific research. We also offer a space for families to share their experiences and support one another.

Question 5

Where can I find information and testimonials from affected families?

Accepted Answer

At LMBRD2.org, we regularly share testimonials from families affected by the LMBRD2 mutation. You can access these resources on our site in the “SuperHeroes” section. These stories are a source of inspiration and support for other families.

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We support families impacted by LMBRD2 worldwide. We believe that by working together, we can accelerate research, offer guidance, and create a brighter future for children living with this rare genetic condition.