Jeffrey L. Neul, MD, PhD, Director of the Vanderbilt Kennedy Center, and Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education, at the Vanderbilt University Medical Center, discusses disorders related to Rett syndrome that are also treated at the Rett Syndrome Clinic.
Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. However, following this regression, around age 5, patients’ abilities often stabilize. This is where this disease differs from a neurodegenerative disorder like spinal muscular atrophy, in which the disease relentlessly worsens over time without treatment. Being a neurodevelopmental disorder, Rett syndrome patients do not experience neuronal death and can, therefore, see benefits to treatment at any age.
As Dr. Neul explains, the Rett Syndrome Clinic at the Vanderbilt Kennedy Center not only treats Rett syndrome but also Rett syndrome related disorders. One of these disorders is MECP2 duplication syndrome, which primarily affects males and is characterized by early-onset hypotonia, delayed psychomotor development, poor speech development, and seizures. Other related disorders are CDKL5 deficiency disorder and FOXG1 syndrome, which are both characterized by significant developmental delay. Additionally, patients with Angelman syndrome, Prader-Willi syndrome, and Down syndrome, may also be treated at the Rett Syndrome Clinic.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology