Genetic testing for neurologic and developmental disorders spans the spectrum from universal newborn screening for conditions like phenylketonuria to diagnostic testing for suspected genetic conditions, to predictive genetic testing for…
Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population….
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival…
Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents…
As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause…
Antibody-mediated diseases of the central nervous system are a relatively new and challenging field in autoimmune neurologic disease and of major clinical importance in children and adults. The antibodies bind…
Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory…
The leukodystrophies are a heterogeneous group of inherited disorders with broad clinical manifestations and variable pathologic mechanisms. Improved diagnostic methods have allowed identification of the underlying cause of these diseases,…
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene , found on chromosome 9q34,…
Self-injury is a complex and poorly understood behavior observed in people with psychopathology or neurodevelopmental disorders (NDD). Despite the differences in etiology and progression of these distinct disease domains, it…
