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Doose Syndrome (“Doose综合征”)
Myoclonic atonic epilepsy (“MAE”), typically known as Doose Syndrome is an uncommon childhood epilepsy syndrome that accounts for 1 to 2 out of 100 (1 to 2%) of all childhood-onset epilepsies. Doose Syndrome is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures, i.e. seizures that involve a myoclonic seizure followed immediately by an atonic seizure. This type of seizure is exclusive to MAE and is one of the defining characteristics of this syndrome.
The ketogenic diet is often very effective for Doose Syndrome and should be considered early. For parents to know that 2 out of 3 children ultimately outgrow their epilepsy and can wear off medication. Development typically improves once seizures are controlled, with some children returning to normal function.
Parents to know more about Doose syndrome emergency home care and our supports, please write to us at patients@apricusbiopharm.com
了解更多小儿癫痫Doose综合征家庭急救措施及患儿看护相关信息,病友群家长敬请联系:bd@apricusbiopharm.com
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Porphyria ("卟啉病")
Porphyria (por-FEAR-e-uh) is a group of liver disorders in which substances called porphyrins build up in the body, negatively affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration.
Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure and high heart rate. The attack usually lasts for days to weeks. Complications may include paralysis, low blood sodium levels and seizures. Children with severe porphyria conditions without effective treatment may not survive to adulthood. Our patient group "Porphyria Care Center" wish to support more porphyria patients to improve possible treatments of the disease.
For more information of Porphyria Care Center ("卟啉关爱中心"), please write to us at patients@apricusbiopharm.com
了解更多"卟啉关爱中心"相关信息,敬请联系:bd@apricusbiopharm.com
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Anderson-Fabry Disease("法布瑞氏症")
Anderson-Fabry disease, also known as Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, hearts and skin. Fabry disease is one of a group of conditions known as lysosomal storage disease. The genetic mutation that causes Fabry disease interferes with the function of any enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organ. It is inherited in an X-linked manner.
Symptoms are typically first experienced in early childhood and can be very difficult to understand; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses. Manifestations of the disease usually increase in number and severity at an individual age. The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking.
To learn more about the diagnosis and treatment of Anderson-Fabry disease and join Fabry patient group, please write to us at patients@apricusbiopharm.com
了解更多法布瑞氏症相关信息及加入病友群,敬请邮件联系:bd@apricusbiopharm.com -
Alzheimer's disease
Alzheimer's disease is a progressive degenerative condition, with age being the greatest risk factor. Over time, the death of brain cells leads to a gradual loss of cognitive abilities, independence, and even basic bodily functions.
The progression of Alzheimer's disease varies from person to person; some may coexist with the disease for years or even decades. Early detection can help slow the progression through medication and lifestyle interventions. However, Alzheimer's disease is currently irreversible.
In the later stages, Alzheimer's affects motor skills, leading to difficulties in physical coordination and balance, and eventually impairing basic motor functions such as swallowing. Difficulty swallowing increases the risk of aspiration (food or liquid entering the lungs), which can lead to pneumonia, a common cause of death in Alzheimer's patients."
了解更多艾森海默症看护信息,敬请联系:bd@apricusbiopharm.com