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 fatt  Read More

At birth, infants with galb deficiency appear healthy, but by 8 to 15 months, they stop growing and start losing their learned skills (developmental regression). Affected people experience seizures and blindness as the illness worsens, and gradually they lose consciousness of their surroundings and become slow to react. Most people who have this type of illness do not live into early childhood. Children with the c  Read More

Multiple sclerosis signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include: Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or the legs and trunk Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement Prol  Read More

Opthalmoneuromyelitis, also known as Devic disease, is an acquired condition triggered by autoimmune reactions and certain microbial infections. However, some studies suspect the involvement of genetic factors. It is a rare chronic demyelinating disorder that affects the optic nerve and spinal cord. There are two forms: monophasic and relapsing. Monophasic occurs once that lasts for 30 to 60 days. Whereas it recurs in a relaps  Read More

Also known as a blind spot, the optic disk is the portion of the optic nerve that enters the eye and joins with a nerve-rich membrane called the retina. the optic disk is also called the optic papilla. Inflammation and deterioration of the optic disc are called optic nerve papillitis, which causes visual impairment with varying severity, ranging from slight visual deficiency to complete loss of light perception. The disease pr  Read More

Batten disease also known as spielmeyer-vogt disease, is a hereditary genetic illness that appears to disrupt the function of lysosomes, which are small structures within cells. Lysosomes are the cell's "recycle bin," regularly breaking down trash, proteins, and naturally occurring fatty molecules called lipids into smaller parts that can be discarded or recycled. Fatty acids, oils, waxes, and sterols are examples of lipids.  Read More

Batten disease also known as spielmeyer-vogt-batten syndrome, is a hereditary genetic illness that appears to disrupt the function of lysosomes, which are small structures within cells. Lysosomes are the cell's "recycle bin," regularly breaking down trash, proteins, and naturally occurring fatty molecules called lipids into smaller parts that can be discarded or recycled. Fatty acids, oils, waxes, and sterols are examples of l  Read More