About batten-mayou syndrome

What is batten-mayou syndrome?

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-mayou syndrome?

Batten-mayou syndrome is an inherited metabolic disorder. It is passed down through families, thereby triggering a genetic mutation in an individual. The batten-mayou syndrome is evident to affect the cell’s competency to break down cellular waste, thereby, eliminating it from the body. When the body is unable to get rid of the sugars, lipids and proteins, they start accumulating, in turn, affecting the nervous system and causing untimely mortality.

Symptoms
The symptoms of batten-mayou syndrome vary from one individual to another. The first signs are mainly:
1. Vision loss that is associated only with children and not adults
2. Seizures or epilepsy
3. Cognitive issues, difficulty in keeping up in schools, or troubled learning
4. Issues with speech such as speech delays, repeating and stuttering phrases or words multiple times
5. Problems and clumsiness with balance, movement, and coordination

Signs that appear later and overlap with the first symptoms are:
1. Muscle spasms, myoclonus, tremors, abnormal muscle twitches, and tics
2. Changes in behavior, personality, or mood
3. Dementia
4. Episodes of psychosis and hallucinations
5. Sleep disturbances
6. Muscle rigidity and spasticity
7. Limb Weakness that progresses into paralysis
8. Heart issues such as arrhythmia in young adults and adolescents

Symptoms
Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Conditions
Breakdown of arterial wall integrity in brain
Drugs
NA

What are the causes for batten-mayou syndrome?

Batten-mayou syndrome is a genetic disorder also popular as Batten disease. It is inherited by children if both parents possess Batten disease. Thus, if the parents are also carriers of the faulty gene causing Batten-mayou syndrome, the children are at risk of developing this disorder. The gene that causes Batten-mayou syndrome affects the body’s competency to break down and eliminate cellular waste. The cellular waste includes lipids, proteins and sugars that accumulate all over the body. This affects the brain cells, and they stop working due to the accumulation of cellular waste.

Causes
1. As stated before, Batten-mayou syndrome is an inherited disorder affecting the functions of the tiny bodies evident within cells referred to as the lysosomes.
2. Lysosomes are considered to recycle bins of the cell and are responsible for breaking down waste, naturally occurring fatty compounds called lips, and proteins into small components that can be eliminated from the cell or recycled.
3. Lipids include oil, fatty acids, sterols, and waxes. In Batten-mayou syndrome, the mutated genes cannot produce the accurate amounts of proteins essential for lysosomal function.
4. Each gene that represents a form of the disease generates information for a definite protein, which is not produced and is defective.
5. These proteins are required for neurons and other specific cells to work efficiently. The lack of a functional protein leads to the accumulation of wastes in lysosomes.

Symptoms
Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Conditions
Breakdown of arterial wall integrity in brain
Drugs
NA

What are the treatments for batten-mayou syndrome?

Batten-mayou syndrome is also referred to as neuronal ceroid lipofuscinoses (NCL). This highlights a group of adverse neurological conditions stimulated by defects in the processes involved in the breaking down of lipofuscin. It is evident that lipofuscin accumulates in the cells within lysosomes, which is responsible for breaking down the cellular waste. In some instances, it also accumulates in tissues and cells elsewhere in the body such as skin, eyes and muscles.

Treatment
1. No definite treatment is noted to date that can alter the symptoms of Batten-mayou syndrome.
2. The Food and Drug Administration (FDA) in 2017 approved an enzyme replacement therapy for the CLN2 disease. This is called cerliponase alfa, such as Brineura, which is evident to halt or slow down the progression of symptoms. It is noted that there is currently no treatment that can stop or slow down disease progression for Batten-mayou syndrome.
3. Seizures can be controlled in some instances with antiseizure drugs.
4. Other medicines evident to treat depression, anxiety, spasticity and others are used sometimes.
5. Occupational and physical therapy is recommended due to the lack of medications to cure Batten-mayou syndrome.
6. Support groups are available to help children and their families to cope with the severe symptoms of Batten-mayou syndrome.

Symptoms
Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Conditions
Breakdown of arterial wall integrity in brain
Drugs
NA

What are the risk factors for batten-mayou syndrome?

Batten-mayou syndrome is another name for Batten disease, which describes rare neuronal system issues referred to as neuronal ceroid lipofuscinoses (NCL). In this disease, cellular waste builds up in the body. These contain lipids, proteins, and sugars and are also likely to affect the skin, eyes, brain, and other sites of the body.

Risk factors
1. This syndrome is highly common in children; thus, children are at a higher risk of developing Batten-mayou syndrome.
2. Children whose parents are carrying the gene causing the disorder or possess Batten-mayou syndrome are likely to get affected by this disease.
3. It is unclear how many people are affected by this disorder, but it can be estimated that approximately 1 in 12,500 people are affected with Batten-mayou syndrome.
4. Additionally, it is noted that an estimated 2 out of 4 individuals of every 100,000 children in the US possess a chance of getting this disease from their parents.
5. Many more children can be affected, but the exact figure is unknown.
6. The childhood-onset variants of Batten-mayou syndrome are evident to be the most common neurodegenerative disorders of childhood.
7. Some research highlighted that people of northern European descent inherit this disorder.

Symptoms
Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Conditions
Breakdown of arterial wall integrity in brain
Drugs
NA

Is there a cure/medications for batten-mayou syndrome?

Batten-mayou syndrome is a very rare syndrome mostly found in children between the age of 10 to 14 years and in adults in their 40s. When developed in adulthood this disease can be cured to some extent but in children, this disease often leads to death. The cause of this fatal genetic disorder is often the inherited metabolic disorders found in the family genes. This disorder further causes problems with the nervous system and the patient goes through seizures, vision loss, and cognitive issues.
Unfortunately, there is no complete cure or medication for the batten-mayou syndrome disease.
Researchers are still developing therapies and medicines to cure this fatal disease.
But doctors do follow several treatment procedures to help a patient with this rare disorder so that they can at least live a bit longer life.

The treatment is done on the basis of certain diagnoses that include-
1. DNA test: A sample of blood or saliva is collected and the lab studies the DNA for mutation in certain genes.
2. Biopsy: A sample of tissues usually from the skin is collected and the abnormal formation of lipofuscins.
3. Eye test: Eye testing is done to check the condition of the retina and the optic nerve.
4. A medicine called cerliponase alfa is used to treat batten disease. But it is only for a particular type of patient and can’t be used for all. Better medications, stem cell transplants, gene therapy, etc., are in line for the treatment of batten-mayo disorders and researchers are actively studying it.

Symptoms
Asymptomatic, unless rupture in the vessels,Thunderbolt headaches,Nausea,Vomiting when ruptured
Conditions
Breakdown of arterial wall integrity in brain
Drugs
NA

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