PEDIATRIC NEUROSCIENCES

Neurogenetic disorders in children are a diverse group of conditions affecting the brain, spinal cord, peripheral nerves, and muscles, caused by genetic mutations or chromosomal abnormalities. There are hundreds of distinct neurogenetic diseases, each presenting with a unique spectrum of symptoms. These disorders may manifest at birth or emerge later during development. They encompass a wide range of conditions including structural brain abnormalities, neurodevelopmental disorders, inherited syndromes, as well as neurological challenges such as seizures, muscle weakness, impaired balance, and cognitive difficulties.

Key examples include:

  • Epilepsy and Autism Spectrum Disorders

  • Parkinson’s Disease

  • Fragile X Syndrome

  • Brain Malformations

  • Multiple Sclerosis and Ataxia

  • Autosomal Dominant Leukodystrophy

  • Mitochondrial Disorders

  • Hydrocephalus and Lysosomal Storage Diseases

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