Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV) (MRD19)

What is Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV)(MRD19)?

Formerly known as Mental Retardation, Autosomal Dominant 19 syndrome, this rare disease is a neurodevelopmental condition, the main symptoms of which include intellectual disability, symptoms related to spasticity and eye and visual issues.

What gene change causes Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV)(MRD19)?

Mutations in the CTNNB1 cause the syndrome.

It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it on to each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV)(MRD19)?

Intellectual disability and global development delay are two major symptoms of the syndrome. Behavioral issues are recognized as symptoms as well.

Low muscle tone, affecting muscle coordination, is another symptom of this rare disease.

Unique craniofacial features and a very small head are characteristic of the syndrome.

Visual and eye issues are also main symptoms. These might include crossed eyes, issues affecting the optic nerves which transmit information from the eyes to the brain and other anomalies affecting the retina of the eye or eyes.

Spasticity particularly in the lower limbs, is also a prominent feature.

How is Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV) (MRD19) diagnosed?

To find out if someone has a diagnosis of Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV) (MRD19), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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