NEDAMSS

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Synonyms

Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures,

Overview

Mutations like Elly’s in the IRF2BPL (Interferon regulatory factor 2 binding protein-like) gene are known to cause a neurodegenerative disease called Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS). The mutation affects the central nervous system and is a regressive disorder. It can impact motor skills, speech, eating, and eyesight, among other functions.

While symptoms can appear in the first months of life, most individuals show their first symptoms in early childhood after meeting normal developmental milestones. Initial symptoms may include seizures, uncontrollable movements, abnormal eye movements, and developmental delays. There is no known cure or treatment for the disease

Symptoms

Regression: Loss of previously acquired skills, such as walking, talking, and motor skills.

Abnormal movements: These can include extra movements, tremors, dystonia, and parkinsonism. 

Speech loss: Individuals may lose the ability to speak or communicate verbally. 

Seizures: Seizures can range from mild to severe, and various types have been reported. 

Developmental delays: Individuals may experience mild to profound developmental delays, often leading to intellectual disability. 

Other symptoms: Some individuals may also experience feeding issues, gastrointestinal dysmotility, ophthalmologic problems, and psychiatric symptoms like autism, anxiety, and depression. 

Causes

NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) is primarily caused by mutations in the IRF2BPL gene, a gene that encodes the IRF2BPL protein. Specifically, research indicates that NEDAMSS is caused by heterozygous truncating mutations in this gene. The IRF2BPL protein plays a role in regulating gene expression, and its dysfunction due to mutations leads to the symptoms of NEDAMSS

Diagnosis

NEDAMSS, or Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures, is diagnosed based on clinical features and genetic testing.

Prognosis

“There is no treatment for NEDAMSS. With this diagnosis you can expect your child to lose the ability to walk, to speak, to lose everything,” says Kathrin C Meyer, PhD, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital