While Rett Syndrome and MECP2 duplication syndrome are generally considered to share many features, one difference sometimes mentioned is that symptoms of autonomic nervous system dysfunction often are reported in Rett syndrome but not in MECP2 duplication syndrome. However, there may be more autonomic symptoms with MECP2 duplication syndrome than are currently recognized.
So, what is the autonomic nervous system and what are symptoms of autonomic nervous system dysfunction? The autonomic nervous system controls many of the involuntary and regulatory functions of our bodies, such as widening and narrowing of blood vessels, heart rate, sweating, pupil dilation and constriction, some aspects of lung function, some of our immune responses, peristalsis, and a number of other body functions. Autonomic nervous system dysfunction can be difficult to recognize because it can manifest in so many different ways and often the possible effects are opposite extremes since the the two (two sympathetic and parasympathetic) components typically produce opposite effects and dysfunction can produce an imbalance in either direction. Dysfunction of the autonomic nervous of dysautonomia system can include a wide variety of symptoms including:
- Rapid heart beat or slow heart beat
- Blood pressure regulation problems
- Flushing or blushing episodes
- Panic attacks
- Excessive watery salivation or lack of salivation
- Body temperature regulation problems
- Excessive thirst or lack of thirst
- Swallowing difficulties
- Acid reflux
- Intestinal pseudo-obstruction
- Diarrhea episodes
- Loss of appetite
- Nerve pain
- Cold hands and feet
- Sleep disorders
- bruxism – Teeth grinding
Of course, many of these symptoms can be caused by other conditions. for example, drooling can be caused simply by low muscle tone in the oral structures. Nevertheless, many of these symptoms can be caused in part or in total by autonomic system imbalances.
We have seen several things that we suspect might by autonomic symptoms in our son. He has chronic mild hypotermia. His body temp has typically run around 34.7 (94.5) although recently it is usually around 36 (96.8 F). When it gets up to 37 (98.6 he is sick ). He also has Reynaud phenomenon; If he gets cold his hands and feet turn purple and stay that way for a long time. Have you seen anything in your family member with MECP2 duplication syndrome that you think might be autonomic nervous system dysfunction?