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Goals of physical therapy treatment include improving and maintaining function by addressing impairments in mobility, posture, cardiovascular endurance, coordination, and balance. [9] A physical therapist can also fit braces, casts, and assistive devices as necessary to those with Rett syndrome to address bony malformations, and stabilize ...
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
Trofinetide is indicated for the treatment of Rett syndrome in people two years of age and older. [3] [8] Rett syndrome is a rare, genetic neurological and developmental disorder that affects the way the brain develops. [4] People with Rett syndrome experience a progressive loss of motor skills and language. [4]
What is Rett syndrome? Experts explain the symptoms of this rare genetic disorder and what we know about life expectancy and treatments so far.
CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).
Asperger syndrome (9% of autism diagnoses); Rett syndrome; and; Childhood disintegrative disorder (CDD). The first three of these disorders are commonly called the autism spectrum disorders; the last two disorders are much rarer, and are sometimes placed in the autism spectrum and sometimes not. [2] [3]
Rett syndrome, another X-linked disorder, produces severe functional limitations. [44] Williams syndrome is caused by small deletions of genetic material from chromosome 7 . [ 45 ] The most common recurrent copy number variation disorder is DiGeorge syndrome (22q11.2 deletion syndrome), followed by Prader-Willi syndrome and Angelman syndrome .
The disorder should be differentiated from several other conditions, especially centrotemporal spikes without seizures, centrotemporal spikes with local brain pathology, central spikes in Rett syndrome and fragile X syndrome, malignant Rolandic epilepsy, temporal lobe epilepsy and Landau-Kleffner syndrome. [citation needed]