Rare epilepsy disorder

Importantly for the community, ® (fenfluramine) is helping to improve access in the U.S. to a much-needed treatment for both DS and another rare form of epilepsy called Lennox-Gastaut syndrome (LGS). 1 FINTEPLA is approved in the U.S. for the treatment of seizures associated with both DS and LGS in patients two years of age and older. 1 Both DS and LGS belong to a group of severe epilepsies called developmental and epileptic encephalopathy (DEE), typically developing in childhood and resulting in developmental impairment. 2,3,4 DS is marked by frequent treatment-resistant seizures; significant cognitive, behavioral, and motor impairments that persist into adulthood; and an increased risk of premature mortality. 5 Currently, less than 10% of people with DS are able to achieve freedom from their persistent seizures. 6LGS is also characterized by treatment-resistant seizures and is associated with high morbidity as well as issues with communication, psychiatric symptoms, sleep, behavioral challenges, and mobility. 3,7 DS and LGS are two of the most devastating forms of epilepsy – each requiring consistent and lifelong management to mitigate the dangerous side effects and detrimental impacts on quality of life. 3,8 Reducing barriers to appropriate treatment and increasing knowledge about these conditions may help people with DS and LGS speak with their doctors about medications 8 that can potentially help reduce seizure frequency. 1 Robust evidence supports the efficacy profil...

Dravet syndrome is a rare, • Before 1989, this syndrome was known as epilepsy with polymorphic seizures, polymorphic epilepsy in infancy (PMEI), or severe myoclonic epilepsy in infancy (SMEI). • The disease begins in infancy and is lifelong. Some more important points: • Infants have normal development when seizures begin. Yet as seizures continue, most children develop some level of developmental disability. By later childhood, most children also develop a crouched walk. • Diagnosis is often delayed. • About 8 out of 10 people with this syndrome have a Seizures generally start within the first year of life. The first seizure often happens with a fever and may be a • These seizures are often long (lasting more than 5 minutes) and can result in • Other seizure types seen in children with Dravet syndrome include • • • • • Focal • • • After the first • Seizures can also be triggered by slight changes in body temperature that are not caused by infection, for example a warm or hot bath water or hot weather. • Many children have • Emotional • Children usually develop normally in the early years. After age 2, they may lose developmental milestones. Yet they often do not progress as quickly as they get older. • Other problems that may be seen include • Low motor tone • Unsteady walking • Older children and adults may develop a crouched gait (way of walking) • Growth and nutritional problems • Problems with the autonomic nervous system, which serves involuntary body functions like ...

CDKL5 deficiency disorder is a rare X-linked genetic disorder first identified in 2004. An X-linked disorder means that the gene carrying the problem is found on the X chromosome. CDKL5 stands for cyclin-dependent kinase-like 5 and is a gene located on the X chromosome. A woman contributes two X chromosomes to her child and the father contributes one X chromosome and one Y chromosome. The CDKL5 gene tells the body how to make a protein that’s needed for normal brain development. Most people affected by a CDD have seizures that begin within the first months of life. Problems with the baby’s development then occur, leading to severe developmental delay. Medically, the term used to describe this combination of problems is Recent studies have shown the main features of CDKL5 deficiency disorder include: • Seizures starting in the first 3 to 6 months of life (some seizures may begin as early as the first week of life). • Problems with development of the nervous system, including cognitive development. • Stereotyped repetitive hand movements. The full extent of CDKL5 Deficiency Disorder (CDD) is not known at this time. CDKL5 genetic changes or mutations have been found in children diagnosed with many other neurologic disorders, including infantile spasms, Seizures are a major feature in children with CDKL5 deficiency disorder (CDD). Early onset seizures can happen within the first hours, days, weeks, or months. The most common In the beginning, seizures occur during sleep but wi...

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