Rett Syndrome Genetic Nervous System Disorder Causes Movement Problems Symptoms
Rett syndrome is a genetic nervous system disorder that affects brain development. Its generally not inherited, but occurs randomly.
Rett syndrome is almost exclusively a female problem because it’s gene mutation is in the X chromosome. So, afflicted males typically don’t survive.
Rett syndrome nervous system disorder is usually not detected right away because development seems to be normal until around a year and a half. About this time, progression of development slows in those with Rett. Then, a period of regression takes place wherein increasing problems with movement materializes.
Rett syndrome causes symptoms similar to autism, with its initial noticeable symptoms of lack of eye contact and loss of interest behavior. Over time, increasing problems with movement affects hand use, speech, walking, chewing and breathing.
The gamut of symptoms Rett syndrome may cause include:
- GERD
- apraxia
- seizures
- drooling
- scoliosis
- toe walking
- loss of speech
- reduced mobility
- muscle weakness
- learning difficulty
- severe constipation
- social engagement problem
- problems swallowing, chewing
- language development problems
- shaky, unsteady, stiff movement
- purposeful hand movement loss
- hypotonia ~ floppy arm, leg movement
- poor circulation ~ cold, blue extremities
- decreased bone density causing fractures
- compulsive hand movements ~ hand wringing, clapping
- breathing problems ~ hyperventilation, apnea while awake, stressed
Widespread movement problems are very disabling symptoms of Rett syndrome.
Because Rett syndrome is a severe and incurable nervous system disorder, supportive care is necessary throughout life. Treatments focuses on:
- preserving movement
- slowing loss of abilities
- receiving adequate nutrition
- encouraging communication
- drugs to alleviate symptoms
- maintaining adequate weight
Average life expectancy is 40+ years. Death is often caused by seizures, aspiration pneumonia, malnutrition or an accident.
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