Rett syndrome | |
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Other names | Cerebroatrophic hyperammonemia (obsolete),[1][2] dementia, ataxia, and loss of purposeful hand use syndrome[3] |
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A girl with Rett syndrome | |
Specialty | Pediatric Neurology, Medical Genetics |
Symptoms | Impairments in language and coordination, and repetitive movements, slower growth, smaller head[4] |
Complications | Seizures, scoliosis, sleeping problems[4] |
Usual onset | After 6–18 months of age[4] |
Duration | Lifelong[5] |
Causes | Mutation in the MECP2 gene[4] |
Diagnostic method | Based on symptoms, genetic testing[5] |
Differential diagnosis | Angelman syndrome, autism, cerebral palsy, Childhood disintegrative disorder, various neurodegenerative disorders[6] |
Treatment | Special education, physiotherapy, braces[5] |
Medication | Anticonvulsants[5] |
Prognosis | Life expectancy for many is middle age.[5] |
Frequency | 1 in 8,500 females[4] Lethal in males, with rare exceptions. |
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females.[4] Symptoms include impairments in language and coordination, and repetitive movements.[4] Those affected often have slower growth, difficulty walking, and a smaller head size.[4][5] Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems.[4] The severity of the condition is variable.[5]
Rett syndrome is due to a genetic mutation in the MECP2 gene,[4] on the X chromosome.[5] It almost always occurs as a new mutation, with less than one percent of cases being inherited.[4][5] It occurs almost exclusively in girls;[4] boys who have a similar mutation typically die shortly after birth.[5] Diagnosis is based on the symptoms and can be confirmed with genetic testing.[5]
There is no known cure for Rett syndrome.[5] Treatment is directed at improving symptoms.[5] Anticonvulsants may be used to help with seizures.[5] Special education, physiotherapy, and leg braces may also be useful depending on the needs of the child.[5] Many of those with the condition live into middle age.[5]
The condition affects about 1 in 8,500 females.[4] In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.[7][8]
Rett initially called this syndrome cerebroaatrophic hyperammonemia, but the elevated ammonia levels in the bloodstream were later found to be only rarely associated with this condition (can Acker, Loncola, & Can Acker, 2005).
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