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Download 8. Elvia Jimenez Ramos - Spastic Cerebral Palsy
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Transcript
Spas2c Cerebral Palsy Elvia Jimenez Spas2c Cerebral Palsy • Common disorder of childhood caused by an abnormality of the brain • Affects a child’s ability to coordinate body movements • O>en accompanied by disturbances in behavior, cogniLon, communicaLon, and percepLon Symptoms • SLff and Lght muscles that cannot stretch • Abnormal walk – Legs make “scissor” movements – Arms tucked in toward the sides • Can affect one leg, arm, both, or an enLre side of the body • Joint contracture • Paralysis Brain and Nervous System Symptoms • • • • • Mild to severe mental retardaLon Hearing and vision problems Dysarthria (speech problems) Seizures Pain Diagnosis • Electroencephalogram (EEG) – Used to check for epilepsy • Brain Scans – Cranial ultrasound – CT Scan – MRI • Lab Tests – Blood tests – Hearing screen – Vision tesLng Treatment • There is NO cure, it is a lifelong disorder • Therapies – Physical therapy – OccupaLonal therapy – Speech therapy • MedicaLons – AnLconvulsants – Botulinum toxin – Muscle relaxants • Surgery – Orthopedic – Severing nerves Molecular GeneLcs • Through various methods, such as, linkage analysis and long-‐range PCR, we can find 3 different geneLc variaLons : – homozygous mutaLon in the GAD1 gene on chromosome 2q31 – homozygous mutaLon in the AP4M1 gene on chromosome 7q22.1 – deleLon of ANKRD15 gene on chromosome 9p24 • ImprinLng effect inheritance • Great example of how mulLple genes give rise to the same disease Conclusion • The rate of cerebral palsy has not decreased • Improvements in care have greatly improved over the last 15 years Sources • • • • OMIN GeneReviews MayoClinic.com A.D.A.M.
