MAPK8IP3-Related Neurodevelopmental Disorder

ASP Health Patient Assistance Programs - MAPK8IP3-Related Neurodevelopmental Disorder

MAPK8IP3-Related Neurodevelopmental Disorder


The MAPK8IP3-related neurodevelopmental disorder, also known as a neurodevelopmental disorder with or without variable brain anomalies (NEDBA), is a rare genetic condition caused by harmful changes (pathogenic variants) in the MAPK8IP3 gene, leading to neurodevelopmental disease.

neurodevelopmental-disorder

Signs and Symptoms


Neurodevelopmental disabilities are common in individuals with MAPK8IP3-related disorders. The MAPK8IP3-related neurodevelopmental disorder causes mild delays in walking, muscle tone (both hypertonia and hypotonia have been reported), variable intellectual impairment, and poor speech from infancy or early childhood.

On an MRI, some individuals have brain abnormalities. Early puberty, short stature, and different facial features have also been reported.


ASP Health offers patients information about programs that provide assistance. We facilitate prior authorization at ASP Health to ensure that patients receive the most appropriate medications while reducing drug costs.


Causes


A MAPK8IP3-related developmental disorder is caused by harmful changes in the MAPK8IP3 gene. According to published literature, 18 individuals are affected.

Affected Populations

There is no information about the number of people living with MAPK 8P3-related disorders. According to estimates, worldwide there is approximately one MAPK8IP3 variant per 100,000 people (Chung, 2020). Currently, 18 individuals have been reported to be affected.


neurodevelopmental-disorder
neurodevelopmental-disorder

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Connect with ASP Health through the Patient Assistance Program and co-pay assistance which provides medicines at discounted/ low or no cost. Healthcare organizations and pharmaceutical companies managed these programs. Enrollment is totally free. Benefits and required information vary according to programs for eligible patients.

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