Informacje
Spotkania

Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

the Cornelia de Lange Syndrome (CdLS) Foundation USA
1 wspierający
Zakończone, Zamknięte!

The autonomic nervous system is responsible for controlling bodily functions without a person needing to think about them, for example, breathing, heartbeat and digestion. Most individuals with CdLS have mild abnormalities in their autonomic nervous system and approximately 25% of individuals with CdLS will have marked abnormalities. Dystonia (uncontrolled muscle movements) and catatonia (apparent unresponsiveness and inability to move) are rare in CdLS.

Seizures are common in the CdLS spectrum. A seizure is caused by an abnormal discharge of electrical activity in the brain.

There is some evidence that individuals with CdLS have sensory deficits and temperature insensibility. This means that the part of the nervous system associated with pain and sensation might not be sending the right signals to the brain.

Zalecenie(a)

Autonomic nervous system

R47
Napady padaczkowe u osób z CdLS powinny być leczone zgodnie z ogólnymi schematami postępowania.
R48
Badanie MRI mózgu powinno być rozważane tylko wtedy, gdy u osoby z CdLS występują objawy neurologiczne inne niż mikrocefalia (głowa mniejsza niż normalna).


                                                                                                                                                                                                                                                                                                                                                                           

Znajdź inne strony, które mają ten sam temat co ta strona SMC1A3 SMC1A1 Autonomic nervous system6 Seizures1
    Każdy człowiek jest wyjątkowy!
    Wartość uśmiechu!
    Siła Miłości!

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        


  

Pogłęb swoją wiedzę na temat Zespół Cornelia de Lange (CdLS).

Organizujemy nasze information o Zespół Cornelia de Lange (CdLS) w tematach. Możesz przeglądać nasze tematy poniżej. Poniżej każdego tematu możesz znaleźć bardziej szczegółowe tematy z information, które mogą Cię zainteresować.

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org