Azorean neurologic disease is one of the 40 types of spinocerebellar ataxia (SCA). It is the third type and is called type 3 SCA. Mutations in the gene that codes for the protein ataxin-3 cause the disease. Particularly, the gradual expansion of the CAG repeats is the cause. Normal ataxin-3 is involved in protein homeostasis and cytoskeleton regulation in the central nervous system. The abnormal ataxin protein leads to the los  Read More

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

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 an  Read More

Foodborne botulism Signs and symptoms of foodborne botulism typically begin between 12 and 36 hours after the toxin gets into your body. But, depending on how much toxin was consumed, the start of symptoms may range from a few hours to a few days. Signs and symptoms of foodborne botulism include: Difficulty swallowing or speaking Dry mouth Facial weakness on both sides of the face Blurred  Read More

The signs and symptoms of a brain tumor vary greatly and depend on the brain tumor's size, location and rate of growth. General signs and symptoms caused by brain tumors may include: New onset or change in pattern of headaches Headaches that gradually become more frequent and more severe Unexplained nausea or vomiting Vision problems, such as blurred vision, double vision or loss of peripher  Read More

A brain tumor, general, is the mass growth of abnormal cells in the brain. There are different types of brain tumors, some are noncancerous (benign), and some brain tumors are cancerous (malignant). This can begin in the brain or some type of cancer begins in other parts of the body and spreads to the brain. The treatment of brain tumors depends on the location, size and type of tumor. 1. Treatment of brain tumors  Read More

Creutzfeldt-Jakob disease is marked by rapid mental deterioration, usually within a few months. Initial signs and symptoms typically include: Personality changes Anxiety Depression Memory loss Impaired thinking Blurred vision or blindness Insomnia Difficulty speaking Difficulty swallowing Sudden, jerky movements As the disea  Read More

Best vitelliform macular dystrophy is an autosomal dominant genetic form of macular degeneration that usually begins in childhood or adolescence and slowly progresses to affect central vision. The age of onset and severity of vision loss are highly variable. Best vitelliform macular dystrophy is associated with an abnormality in the VMD2 gene.  Read More

A Dural endothelioma is a tumor that arises from the meninges — the membranes that surround the brain and spinal cord. Although not technically a brain tumor, it is included in this category because it may compress or squeeze the adjacent brain, nerves and vessels. Dural endothelioma is the most common type of tumor that forms in the head. Most Dural endothelioma grow very slowly, often over many years, with  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

Hippel disease (HLS) is a hereditary disorder characterized by tumors developing in many organs. It results from a VHL gene mutation (change). Hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina, are tumors associated with HLS. Retinal tumors, also known as retinal angiomas, can cause blindness if they are not promptly treated. Additionally, clear cell renal cell carcinoma (ccRCC), a particul  Read More

Adie syndrome, also known as Holmes-Adie syndrome, is a rare genetic condition that affects the eye's pupil. Most patients have dilated pupils, which are bigger than normal and slow to respond to bright light. Tendon reflexes can be absent or weak, which is another symptom of this condition. The origin of Adie syndrome is typically unclear (idiopathic), however, it can also be brought on by other disorders such trauma, surgery  Read More

Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. The exact cause of Hydranencephaly is not known. This extremely rare form of Hydrocephalus involves the absence of portions of the brain. Results of neurologic examination in newborns may be normal or abnormal. The head usually appears enlarged at birth. Vision impairment, lack of growth and intellectual deficits are symptomatic of  Read More

The signs and symptoms of hydrocephalus vary somewhat by age of onset. Infants Common signs and symptoms of hydrocephalus in infants include: Changes in the head An unusually large head A rapid increase in the size of the head A bulging or tense soft spot (fontanel) on the top of the head Physical signs and symptoms Vomiting Sleepiness  Read More

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

Mulibrey nanism syndrome (perheentupa syndrome) is an extremely rare genetic disorder with 110 reported cases worldwide. A characteristic feature of the disease is nanism, which means short stature. MULIBREY stands for Muscle, Liver, brain, and eye. The disease course onset is prenatal. After birth, the baby has problems feeding, breathing, and cardiac problems. The children also experience muscle weakness, hepatomegaly, widel  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

Parkinson's disease is a progressive neurological disease that primarily affects the posture and movements of body parts. The signs and symptoms of the condition are tremors, bradykinesia, rigid muscles, impaired posture and balance, loss of automatic movements, and difficulty in writing and speaking.Progressive supranuclear palsy is a rare neurological condition that affects voluntary functions such as balance, gait, vision, speech, cog  Read More

Pineal cysts, Symptomatic are commonly found in individuals in their 40s. Cysts refer to the closed structures formed by one or more layers of tissues filled with fluid. Pineal cysts are made of the inner layer of gliotic cells, a middle layer of pineal parenchyma, and an outer layer of connective tissue. The fluid is proteinaceous. Cysts are either typical (unilocular) or atypical (multilocular with septations). Usually, the  Read More

Retinitis pigmentosa (RP), also called hereditary retinal dystrophy, is the most common form of retinopathy. 70 to 80 % of the cases are non-syndromic, in which the patient only loses vision. On the other hand, syndromic patients suffer from systemic involvement in addition to visual impairment. Generally, the initial symptom is loss of night vision. As the disease progresses, the visual field narrows gradually. Eventually, it  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

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of p  Read More

The disorder known as von hippel-lindau (VHL) disease is hereditary (inherited). People with VHL have an increased risk of developing cancers in their eyes, kidneys, pancreas, adrenal glands, brain, spinal cord, and early adulthood. Most of the time, these tumors are benign (not cancer), but some of them can be malignant (cancerous). Is the von Hippel-Lindau (VHL) disease manageable? There is a 50% ri  Read More