The Batten Disease And Its Effects On The Nervous System

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

The word encephalitis is derived from two Greek words. Enkephalos, which means brain, and itis, which means inflammation. Encephalitis was defined by Sir John Burton Cleland, a pathologist and naturalist. When he defined it, it was named ‘Australian X disease’.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

This website is a great website for parents who want to learn basic information on the disorder. It gives what the main symptoms are and how the disorder occurs. It explains what the treatments are and how the disorder is diagnosed in a clear easy way. It also gives a brief description that's easy to understand.

Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken.

Warren Tay who was a British ophthalmologist physician, he noticed a cherry red spot in the retina of a one year old child who was suffering from mental and physical retardation. Bernard Sachs who was an American neurologist noticed an extreme swelling of neurons in autopsy tissue from affected children. He also founded that the disease comes from the families who is Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells

The infantile form of Sandhoff is the most common while also being the most severe “A baby with classic Tay-Sachs or classic Sandhoff disease starts to develop normally in the first few months of life. Signs and symptoms of the disease appear by about 6 months, when the baby slowly stops smiling, crawling, turning over and reaching out. Your baby’s healthcare provider may see cherry-red spots in your baby’s eye during an eye exam. Over time, a baby continues to lose skills and develops other health problems, including: Breathing problems , Hearing loss , Intellectual disabilities. These are problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others. Paralysis, Seizures, Swallowing problems, Vision loss, leading to blindness” (“http://www.marchofdimes.org/complications/tay-sachs-and-sandhoff-diseases.aspx” 1). Another form of the sandhoff disease is the juvenile form of sandhoff which is less rare than the infantile form. “Juvenile Tay-Sachs and juvenile Sandhoff diseases. These diseases can begin anytime during childhood. Children with these conditions die by the time they’re 15 years old. They show signs or symptoms when they’re 2 to 5 years old, including: Being clumsy , Having slurred speech ,Having weak muscles

disease and Alzheimer’s. Severe infection that has spread to the brain, epilepsy, stroke, and the late

A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long-chain fatty acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS). The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the blood-barrier in the central nervous system; The olygodendorocytes form the myelin sheath that covers the axons and facilitate the effective propagation of action terminals from the neuron to the target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1 gene of the X-chromosome, it causes the demyelination of the neurons in the CNS inhibiting the integration of the information from sensory stimuli and the proper response to them, causing eventually death. X-linked disorders are present are a wide variety of phenotypes, CCALD is the most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity, its commonly misdiagnosed (Engelen).

Orphan diseases are rare diseases that affect less than 200,00 people nationwide. Due to the fact that they are not commonly found, they are are often overshadowed by more prevalent diseases, such as malaria or hepatitis. Therefore, this is often not enough government funding needed to research these diseases. Charcot Marie Tooth Disease (CMT) is one of the most common, yet unknown, rare neurological disorders. This disease mainly affects the nervous systems, often impairing motor skills and causing the decaying of muscles in the arms and legs. Charcot Marie Tooth Disease was first discovered in the early 1900s by Professor Jean Martin Charcot and Pierre Marie of France, and Henry Howard Tooth of England (Muscular Dystrophy Association). There

Tay-Sachs Disease is a rare fatal hereditary disease, occurring chiefly in infants and children, characterized by a red spot on the retina, gradual blindness, and paralysis. In infants, it is a progressive disease that is unfortunately always fatal. It is a rare metabolic disorder with severe neurologic symptoms.When you get this disease it causes fatty acids to start breaking down. Theses fatty acids are called lipids. Without Hex-A lipids start building up and eventually destroy the nerve cells in the brain. This is what makes the nervous system stop functioning properly.

Tay-Sachs disease is an autosomal recessive genetic disorder, which means it can be passed down parents’ genes and is located on a non-sex chromosome. The form ,ost discussed is known as infantile Tay-Sachs disease, the symptoms of which are the deterioration of mental and physical abilities, which starts affecting children at six months old and normally results in death by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides gather in the nerve cells of the brain, eventually leading to the premature death of those cells. The condition is

Encephalitis is a disease that effects the brain. Encephalitis is the inflammation of the brain which can be caused by any one of a number of viruses. Arboviruses, viruses transmitted through insect bites, are one of the most common causes of viral encephalitis, which also includes Japanese encephalitis and tick-borne encephalitis viruses (World Health Organization [WHO], 2014).

The Department of Pediatrics at the DHQ Allied Hospital recently conducted a randomized controlled trial of newly diagnosed CD patients between the ages of 1-15 years.11 The researchers studied the effectiveness

The French Neurologist Jean-Martin Charcot first discovered motor neurone disease MND in 1874. Motor function is controlled by the upper motor neurones in the brain that descend to the spinal cord, these neurones activate lower motor neurones. The lower motor neurones exit the spinal cord and directly activate muscles. With no nerves to activate them, muscles gradually weaken and waste. MND can affect a person’s ability to walk, speak, swallow and breathe. The muscles first affected tend to be those in the hands, feet and mouth, dependent on which type of the disease you are diagnosed with.