What are the symptoms of Rett syndrome?

The first symptom of Rett syndrome is usually the loss of muscle tone, called hypotonia.¹ With hypotonia, an infant's arms and legs will appear "floppy."

Although hypotonia and other symptoms of Rett syndrome often present themselves in stages, some typical symptoms can occur at any stage. Symptoms may vary among patients and range from mild to severe.³

Typical Symptoms (may occur at any stage) can include:

• Loss of ability to grasp and intentionally touch things
• Loss of ability to speak. (Initially, a child may stop saying words or phrases that he or she once said; later, the child may make sounds, but not say any purposeful words.)
• Severe problems with balance or coordination, leading to loss of the ability to walk. (These problems may start out as clumsiness and trouble walking. Although a majority⁴ of those with Rett Syndrome are still able to walk later in life, others may become unable to sit up or walk or may become immobile.)
• Mechanical, repetitive hand movements, such as hand wringing, hand washing, or grasping
• Complications with breathing, including hyperventilation and breath holding when awake
• Anxiety and social-behavioral problems
• Intellectual disability

In addition, a person with Rett syndrome may experience one or more of the following associated problems:

• Scoliosis, or curvature of the spine from side to side. Scoliosis is a problem for the majority⁴ of girls with Rett syndrome. In some cases, the curving of the spine can become so severe that the girls require surgery. For some, bracing relieves the problem, prevents it from getting worse, or delays or eliminates the need for surgery.)
• Seizures. (These may involve the whole body, or they may be staring spells with no movement.)
• Constipation and gastroesophageal reflux
• Discomfort in the abdomen or gallbladder problems such as gallstones⁵
• Cardiac or heart problems,^6,7 usually problems with heart rhythm. (Some persons with Rett syndrome may have abnormally long pauses between heartbeats, as measured by an electrocardiogram, or they may experience other types of arrhythmia.)
• Trouble feeding oneself,⁸ swallowing, and chewing food. (In some cases, too, in spite of healthy appetites, girls with Rett syndrome do not gain weight or have trouble maintaining a healthy weight. As a result, some girls with Rett syndrome rely on feeding tubes.)
• Disrupted sleep patterns at night (during childhood) and increased sleep (after age 5).⁹ (Some researchers¹⁰ suggest that problems with sleep are among the earliest symptoms of Rett syndrome and can appear between 1 and 2 months of age. Such problems can lead to sudden death during sleep.)
• Excessive saliva and drooling²
• Poor circulation in hands and legs²
• Walking on toes or the balls of feet¹¹
• Walking with a wide gait (ataxia)¹¹
• Grinding the teeth (bruxism)¹¹

Symptoms can vary from person to person and from one stage to the next. Symptoms may also improve in the "Plateau Phase" (see What are the types and phases?).