About batten-spielmeyer-vogt's disease
What is batten-spielmeyer-vogt's disease?
Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.
The symptoms of Batten disease usually become apparent between 5 and 15 years of age when progressive loss of vision, seizures, and progressive neurological degeneration develop. In some cases, initial symptoms may be more vague and include clumsiness, balance problems and behavioral or personality changes. Batten disease is inherited as an autosomal recessive trait and occurs most in families of Northern European or Scandinavian ancestry and is found worldwide.
For years, the term Batten disease was used to describe the chronic juvenile form of NCL (JNCL). Recently, some researchers have begun using the term Batten disease to encompass all types of neuronal ceroid lipofuscinoses.
What are the symptoms for batten-spielmeyer-vogt's disease?
Over time, Batten disease damages the brain and nervous system. There are four main types of this condition. These are their common symptoms:
- Changes in personality and behavior
- Speech and motor skills problems that get worse over time
There are four major types of Batten disease. The type will determine the age when symptoms occur and how fast they develop. There is no cure for these disorders but a treatment for one of the forms (CLN2 disease) has been approved by the U.S. Food and Drug Administration in 2017.
What are the causes for batten-spielmeyer-vogt's disease?
Out of every 100,000 babies born in the United States, it’s estimated that about two to four have this disease that’s passed down through families. Since it’s genetic, it can affect more than one person in the same family. Both parents have to be carriers of the gene in order to pass it down. Each one of their children has a one in four chance of getting it.
What are the treatments for batten-spielmeyer-vogt's disease?
There’s currently no known cure for any form of Batten disease, but the FDA approved an enzyme replacement therapy for CLN2 disease (TTP1 deficiency) called cerliponase alfa (Brineura) for one of the forms (CLN2 disease) in 2017. Symptoms like seizures can be improved with certain medications. Other symptoms and issues can be treated too. Some people with Batten disease get physical or occupational therapy to help them function. Scientists continue to research possible treatments and therapies.
What are the risk factors for batten-spielmeyer-vogt's disease?
Problems in the nervous system due to the body's inability to break excess cellular waste is Batten-Spielmeyer-Vogt’s Disease.
There are 14 types of Batten's disease with CLN initial. CLN stands for the name of the affected gene: Ceroid, lipofuscinosis, and neuronal.
The disease is categorized into three main divisions:
1. Rare Disease: This form results in the death of a baby after a few moments of birth.
2. Infantile: It occurs between the age of 6-12 as the children couldn’t survive to post these ages.
3. Late Infantile: Occurs between 2 and 4 with symptoms of inability to walk or speak.
4. CLN3: Children couldn’t survive after age groups of 15-30
5. Adult NCL: It starts before 40 and results in problems like dementia in old age
Batten disease is a rare disease that happens to 3 of every 100,000 children. It is caused due to genetic mutation or error in gene copies a child gets from the parents.
1. If both the chromosomal copies of a gene in a baby have the same mistakes, it creates a problem in breaking fats, sugars, and proteins.
2. It results in the building up of these in the body and damage to the brain cells
3. It is fatal as the excess of components fails multiple organs with the nervous system failure
Vision loss,Cognitive problems,Trouble learning,Difficulty keeping in school,Speaking disorders,Clumsiness
Epilepsy,Seizures,Loss of Motor Skills,Nerve Issues, Fail to move body properly, Mental Impairment, Bedridden, Unable to Communicate
Anticonvulsant drugs, Degrading cellular waste drugs or injections
Is there a cure/medications for batten-spielmeyer-vogt's disease?
Disease caused by a due genetic mutation in a baby or adult and results in the inability of a body to break cellular waste is Batten spielmeyer-Vogt's disease. Different levels of this disease according to the problems and their identifications. They are identified based on a defect in the particularly affected gene. CURES/MEDICATIONS: The more focused method to treat this disease is to control the symptoms of this disease. Following are different ways dedicated to each problem that occurred due to this disease: - Physical Therapy: It reduces pain and numbness in the body with various simple exercises and physical movements. - Anticonvulsant Drugs: These are to help control the reoccurrence of seizures and fit a child There are a few therapies in their experimental stage right now. They can come soon into practice on a bigger scale: - Gene Therapy: Not much in practice is the method to cure a child by replacing a mutated gene with the healthy one. - Stem-Cell Therapy: Similar to genes, stem cells of healthy babies can be used as an agent to cure the brain defects in children with this disease. - Enzyme-Replacement Therapies: Hormonal changes might help normalize the functioning of the nervous system in the future.