Rett+Syndrome+-+Jonathan+T.

Rett Syndrome

**Description: ** Rett syndrome is a neurodevelopment disorder that affects girls almost exclusively. The infant starts out growing and developing normally. After, normal developing, the growth of the baby begins to become slower. The disorder affects your hand movement; it becomes hard to use your hands. The brain and head growth begin to also slow down. The person having this disorder always has problems moving around and walking. The person will experience seizures and will have intellectual disability.

**Inheritance: ** Most causes of Rett syndrome are a result of a mutation in the methyl CpG binding protein, or MECP2. This protein is believed to control the jobs of many other genes. It is extremely rare for Rett Syndrome to be inherited by a parent. Less than one percent of recorded cases of Rett Syndrome are inherited or passed down from one generation to the next.

**Symptoms: ** There are many symptoms that come along with this rare genetic disorder: · Slowed growth · Loss of normal movement and coordination · Loss of communication and thinking abilities · Abnormal hand movements · Unusual eye movements · Breathing problems · Irritability · Abnormal behaviors · Seizures · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Abnormal curvature of the spine; scoliosis · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Irregular heartbeat · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Constipation

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: **

media type="custom" key="9499202" align="center"

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">There are multiple ways of diagnosing Rett syndrome. A physical and neurologic assessment may be given. Blood and urine tests will be given to get results. A patient may be given an Electromyography (EMG). This is a device for recording electric currents from an active muscle. They may also be given a Nerve Condition Velocity (NCV) test. This is a test of the speed of conduction of impulses through a nerve. The patient may be given a cat scan or MRI to find out if they have Rett Syndrome.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">There are many ways to be treated when having Rett Syndrome. Symptomatic and supportive management may be given such as physical, occupational, and speech therapy. There are also special academic, social, vocational, and supportive services.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Many organizations are working to find more treatments, diagnosis methods, and a cure. The National Institute of Neurological Disorders and Stroke and many other organizations research Rett Syndrome. They conduct studies in labs to find out more about how the disease is caused and to develop more methods for therapy. Also, they are trying to deduce how to manage specific symptoms, as well as providing better methods for diagnosis.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: **

· <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">The genetic disorder is very rare. · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Babies appear to grow normally in the first six-to-eight months of living. · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">There is no cure to this genetic disorder. · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Usually, loss of muscle tone will be the first symptom when having Rett Syndrome.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: **



**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Pedigree Chart: **



**<span style="color: black; font-family: 'Times New Roman','serif';">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: ** [|Mayo Clinic]  [|National Institute of Nuerological Disorders and Stoke]  [|Charity's Story]