Wednesday, January 11, 2017

Rett Syndrome

Being one of the more recognizable genetic manifestations in the world of epilepsy, Rett Syndrome (RTT) is often diagnosed through one of two associated genes, MECP2 and CDKL5. Mutations in the FOXG1 gene often fall under the same in the genetic diagnosis umbrella. One of the most surprising facts about the syndrome is that is primarily only affects girls, although there is inclusion criteria that can affect boys. All of the inclusion criteria for typical classic RTT are listed here, typically involving a period of normal development, that regress to a complete loss of language, purposeful hand movements, and a myriad of other neurological issues. Repetitive hand gestures often take the form of hand-wringing, clapping, or hand-rubbing. Unfortunately, seizures are quite common, thus Rett Syndrome is often synonymous with epilepsy.

Monica Coenraads, who is the executive director of the Rett Syndrome Research Trust, works tirelessly to generate research funding to drive the development of potential treatments. Her daughter Chelsea was diagnosed with Rett Syndrome. Most of the research targeted for RTT revolve around alleviating the symptoms, not necessarily focusing on a cure per se, since the genetic mutation(s) associated with Rett's are obviously permanent in nature. However, there have been clinical trials performed to help combat the symptoms, which include creatine therapy, IGF-1, and a few experimental drugs, including EPI-743, which targets specific mitochondrial functions. There is much promise in some of the ongoing studies, as some symptoms have actually been reversed in mice models.

At certain points through Mira's journey with epilepsy (back in the days of single-gene testing) several neurologists were highly suspicious that Mira had Rett Syndrome. Despite the inability to pinpoint any genetic specifics, with Mira (nothing related to MECP2, CDKL5, or FOXG1) she does have many of the hallmark features.

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