Let us explore Rett syndrome in this blog.
Rett syndrome is a genetic disorder which causes neurological/ movement impairment. Rett syndrome is due to a genetic mutation in the MECP2 gene on the X chromosome. It occurs almost exclusively in girls; Males with pathogenic MECP2 mutations usually die within the first 2 years from severe encephalopathy.
This syndrome affects girls (approximately 1 in 10,000) which typically becomes apparent after 6–18 months of age in females.
The disorder was initially found by Dr. Andreas Rett, an Australian Physician in 1966. Dr. Bengt Hagberg in 1983 explained in detail about the causes, clinical features and thus this disorder became recognizable by the population. In 1999 Huda Zoghbi reported that Rett syndrome is caused by mutations in the gene MECP2.
Did You Know ? The first case in India was reported only in 1994
These children are often misdiagnosed as autism, cerebral palsy or idiopathic mental retardation especially during the early stages.
What are the symptoms ?
Not every Child with Rett syndrome will have same symptom. They have been classified under 5 stages according to signs and symptoms.
How it is diagnosed?
The diagnosis of Rett Syndrome is done by observing signs and symptoms during the child’s early growth and development. This is typically done by a paediatric neurologist, clinical geneticist, or a developmental pediatrician.
A blood test / genetic test can be performed to confirm a gene mutation known to be a factor in Rett Syndrome, including the main gene MECP2
Physiotherapy Treatment That Nobody Will Tell You
Physiotherapy plays an important role in managing this neuromuscular disorder. Goals are set to maximize and maintain the functional abilities of a child with Rett syndrome.
Physiotherapists aims to improve or maintain joint mobility and flexibility, balance and coordination, prevent or reduce spinal deformities, maintain lung volume & capacity.
In the above video we have outlined few unexplored Physiotherapy Management for Rett Syndrome.
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Physiotherapists , Connect with Kinesio Prehab Institute if you are looking to upgrade your knowledge by learning How To Treat Rett Syndrome Girls.
Parents of Rett Syndrome Angels , you can connect with us for for information on therapies and guidance.
