CUREYA’s Post

Down syndrome is a genetic disorder caused by having an extra chromosome 21. There are three main types: 1. Trisomy 21 2. Translocation Down syndrome and, 3. Mosaic Down syndrome. Trisomy 21 is the most common, where every cell in the body has an extra chromosome 21. Translocation Down syndrome happens when part of chromosome 21 is attached to another chromosome. Mosaic Down syndrome is the rarest and involves a mix of normal and extra chromosome 21 cells. Each type of Down syndrome has its own challenges, but they all share some common features like developmental delays and certain physical traits. The severity of symptoms can be different for each person. Early help with therapy and education is very important for children with Down syndrome to reach their full potential. Knowing the types helps us give the right support and care. #DownSyndromeAwareness #GeneticDisorders #InclusiveEducation

People with Kabuki syndrome may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Genetic testing can help in diagnosing the mutant variants that increases the risk of developing the disorder. #kabukisyndrome #developmentaldelay #intellectualdisability #genetictesting

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects hormone production in newborns, leading to serious health issues if left untreated. If CAH is affected, it can impact growth, mental health, and more. Newborn screening tests are crucial in identifying CAH early on, allowing for timely treatment and a brighter, healthier future. Read our article to discover the importance of early detection of Congenital Adrenal Hyperplasia with Newborn Screening- https://lnkd.in/dTS2ifwc #CAH #CongenitalAdrenalHyperplasia #GeneticMutations #GeneticDiseases #NBS #Newborn #NewbornScreening #NewbornScreeningTest #BabyFirstTest #LabsystemsDiagnostics

What is the connection between mTOR activity and neurodegenerative disorders? In this video, we dive deep into this relationship and explore the therapeutic promise of rapamycin as a prophylactic against many neurodegenerative disorders. https://lnkd.in/gQK9HXCW

🧬 Rare Disease Spotlight: Wilson's Disease🧬 Wilson's Disease is a genetic disorder that causes copper to accumulate in the liver, brain, and other vital organs. This excess copper can lead to a wide range of symptoms, including liver disease, neurological issues, and psychiatric symptoms. Early diagnosis and treatment are crucial! 🧬🧠 🩺Wilson's Disease might be rare, but awareness is powerful. Share this post to spread knowledge about Wilson's Disease and show support for those living with it. 💙🌐 #WilsonsDisease #RareDisease #AwarenessMatters #HealthcareAwareness #SupportPatients #MedicalKnowledge #HopeForPatients #Athenaeumpub #JournalofPediatricAdvanceResearch

💠Dwarfism is diminished stature caused by a medical or genetic disorder. In general, dwarfism is characterised by an adult stature of not more than 4 feet 10 inches (147 centimetres). Dwarfism is associated with an average adult height of 4 feet (122 centimetres). 💠Conversely, "little people" and "short stature" are terms that some individuals prefer to "dwarf" and "dwarfism." Consequently, it is critical to respect the preference of an individual with this disorder. Familial short stature is not classified as a short stature disorder; it is considered a normal variation in height resulting from typical bone development. Source: Mayo Clinic #dwarfism #geneticdisorder #disabilityaustralia #disabilityrights #disabilitylife #invisibledisability #disabilitysupport #disabilityisnotinability #disabilityisdiversity #disabilitypride #disabilityinclusion #abilitynotdisability #invisibledisability #disabilitysolidarity #disabilityconfident #disabilityisbeautiful #disabilitygamechanger #disabilityawareness

Genetic Disorders Genetic disorders are conditions caused by abnormalities in an individual's DNA. These disorders can affect children in various ways, including physical, developmental, and cognitive challenges. Early intervention through therapy can significantly improve a child's quality of life by addressing these issues and promoting their overall development. At Mind and Motion, we offer specialized services to help treat genetic disorders. With our highly skilled staff and top-notch facilities, we provide the best care to support your child's needs. Rest assured, your child will receive the highest quality services to help them thrive. #MindAndMotion #GeneticDisorders #OccupationalTherapy #PhysicalTherapy #SpeechTherapy

"Autism Spectrum Disorders (ASD) comprise a range of complex neurodevelopmental conditions exhibiting diverse symptoms and severity levels, affecting social interaction and communication skills. Onset typically begins in early childhood, causing challenges in societal functioning. Both genetic and environmental factors may contribute to ASD. Genetic testing is pivotal in diagnosis as it allows tailored management strategies for affected individuals. For more information about #genetic #testing for #Autism Spectrum Disorders, call First Genomix on 04-3443222, or email info@firstgenomix.ae"

A short overview of neurodegenerative disorders...Check out our other articles at CureScience.org.

Although rare, other neurodegenerative disorders can mimic #HuntingtonDisease. Only #wholegenome testing can simultaneously inspect HTT and dozens of other genes for repeat expansions. Learn more about comprehensive testing for movement disorders -> https://ow.ly/MUUM50RGzEy #WeSeeMore #cureHD