The following Conditions are related to Ca

Select a specific condition below to view its details.

  • Batten 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 fatt  Read More

  • 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 fatt  Read More

  • Batten-vogt 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 fatt  Read More

  • Brain tumor - polyposis syndrome

    Brain tumor-polyposis syndrome is characterized by the formation of multiple polyps in the colon along with the primary brain tumor. It is a rare disorder that causes small growths (polyps) in the gastrointestinal tract and brain tumors. Though the exact cause of this syndrome is not known, in most cases it is seen to be caused by a gene mutation. Genes are made of DNA and sometimes the gene changes due to issues with the DNA  Read More

  • Branched chain ketonuria i

    Branched-chain ketonuria, also known as maple syrup urine disorder, is a metabolic disorder caused by the abnormal activity of the Branched-Chain alpha-Keto Acid Dehydrogenase (BCKAD) complex. The enzyme is responsible for the metabolism of branched-chain amino acids. The deficiency of the enzymes leads to the accumulation of the substrate in plasma and urine. The high levels of keto acids lead to serious neurological manifest  Read More

  • Cockayne syndrome type ii

    Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recess  Read More

  • Cutaneous malignant melanoma, hereditary

    Cutaneous Malignant Melanoma, hereditary, is also named dysplastic nevus syndrome. It is atypical mole syndrome. It is a skin disorder. There appears to be the presence of mole-like tumors on the skin, near about more than 100 moles over the body, which are atypical in size and structure. There can be any size, color or location of the moles. The normal moles are of the size of 5mm or more in diameter, but if ther  Read More

  • Dawson's disease

    Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

  • Dawson's encephalitis

    Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

  • De-efferented state

    De-efferented state is also named locked-in syndrome. It is a very rare neurological disorder. In this disorder, there occurs full paralysis of all the voluntary muscles, but only the muscle that controls the movements of the eyes is not affected. The person who is suffering from this disease is alert and conscious, and awake, but they are unable to produce any type of movement, or they are unable to speak. They can only commu  Read More

  • Eec syndrome

    Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs, including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes but can present differently in different people (or  Read More

  • Epilepsy and temporal lobe resection

    temporal lobe resection is a treatment not a disorder  Read More

  • Epilepsy: vagus nerve stimulation (vns)

    Employing a device to deliver electrical impulses to the vagus nerve is known as vagus nerve stimulation (VNS). The application of an implantable vagus stimulator to treat epilepsy is officially approved by the FDA. Each side of your body has one vagus nerve, which travels from your brainstem through your neck to your chest and belly. A neurological condition called epilepsy affects the brain and increases the ris  Read More

  • Galactosyl ceramide lipidosis

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galactosylceramidase deficiency

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galactosylceramide lipidosis

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galb deficiency

    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

  • Globoid cell leukoencephalopathy

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Haddad syndrome

    Normal breathing is impaired by Haddad syndrome, a condition. People with this illness frequently hyperventilate while sleeping, which causes a deficiency in oxygen and an accumulation of carbon dioxide in the blood. The autonomic nervous system, which regulates unconscious bodily functions, would typically respond to such an imbalance by causing the person to wake up or breathe deeply. People with Haddad syndrome  Read More

  • Hie syndrome

    When the brain experiences a reduction in oxygen or blood flow, hypoxic-ischemic encephalopathy (HIE), a type of brain dysfunction (brain injury), takes place. HIE can happen prior to birth, during labor and delivery, or the following delivery. How much brain damage occurs depends on how long the brain is deprived of oxygen and blood flow. HIE syndrome in children could not have any lasting effects. HIE may have a  Read More

  • Holmes-adie syndrome

    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

  • Holocarboxylase synthetase deficiency

    When a person has holocarboxylase synthetase deficiency, their body is unable to metabolize proteins and carbs. Biotin is a vitamin that aids in the body's conversion of specific carbs and proteins into energy; however, people with this illness have difficulty utilizing it. Because it can result in a dangerous accumulation of organic acids and toxins in the body, holocarboxylase synthetase deficiency is regarded as an organic  Read More

  • Homogentisic acid oxidase deficiency

    Risk factors of Homogentisic acid oxidase deficiency: 1. Homogentisic acid oxidase deficiency is an autosomal recessive condition that is inherited. When a person receives the same defective gene for the same trait from both parents, recessive genetic diseases develop. A person will be a carrier for the disease if they have one normal gene and one sick gene, although they often won't exhibit any symptoms.  Read More

  • Hydranencephaly

    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

  • Hyperammonemia due to carbamylphosphate

    Hyperammonemia due to carbamoyl phosphate is one of a set of conditions known as urea cycle disorders. A crucial liver enzyme is absent in people who lack hyperammonemia due to carbamoyl phosphate. Hyperammonemia, which results from this, raises the blood's ammonia levels and can be dangerous, particularly for the brain.The majority of affected people (those with the neonatal-onset form) will exhibit symptoms withi  Read More

  • Hyperammonemia due to ornithine transcarbamylase deficiency

    Hyperammonemia due to ornithine transcarbamylase deficiency, is when a newborn with an unexplained sickness that includes vomiting, progressive lethargy, and irritability should have an hyperammonemia due to ornithine transcarbamylase deficiency assessed. Blood tests may show abnormally high levels of ammonia, which is a sign of a problem with the urea cycle. However, other diseases such as organic acidemias, cong  Read More

  • Idiopathic basal ganglia calcification

    Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased mu  Read More

  • Infantile epileptic encephalopathy

    The neurological condition known as infantile epileptic encephalopathy is characterized by seizures. The condition typically manifests in infants as epileptic seizures within the first three months of life (most frequently within the first 10 days). Symptoms of infantile epileptic encephalopathy 1. The electroencephalogram (EEG), which gauges the electrical activity of the brain, exhibits EIEE symptom  Read More

  • Livedo reticularis and cerebrovascular

    Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral ischemia) and bluish net-like patterns of discoloration on the skin surrounding normal- appearing skin (livedo reticularis). Major symptoms may include headache, dizziness, abnormally high blood pres  Read More

  • Moyamoya syndrome

    Moyamoya syndrome is defined as a progressive condition that disturbs the blood vessels in the brain. One of its earliest signs of evidence is stenosis or occlusion of the carotid artery present in the skull. Simultaneously, this blockage of blood impels the minute blood vessels at the base of the brain open up. It is said to be an attempt to improve the blood supply. The tiny blood vessels --named moyamoya-- give the disease  Read More

  • Mucopolysaccharidosis type iii

    Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is an inborn error in the metabolism of mucopolysaccharides. It reflects in deficiency or little activity of enzymes required for the catabolism of mucopolysaccharides leading to its accumulation. The disease presents with neurological manifestations such as autism, intellectual disability, behavioral problems, sleep disturbances, developmental regression, and  Read More

  • Multiple pterygium syndrome

    Multiple pterygium syndrome is a rare genetic disorder characterized by pterygium of multiple parts of the body, including the neck, fingers, elbow, armpits, thighs, and back of knees. Pterygium refers to the webbing of the skin. The condition is congenital, and progression is prenatal. There are two types of multiple pterygium diseases: Escobar and lethal. Escobar form, also known as Escobar syndrome, is a milder form and pre  Read More

  • Necrotizing encephalomyelopathy of leigh

    Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

  • Neill-dingwall syndrome

    Neill-Dingwall syndrome, also known as Cockayne syndrome, is a disorder characterized by a variety of clinical features, including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties. It is an autosomal recessive genetic disorder, which leads to death by the age of 12 years on ave  Read More

  • Nonketotic hyperglycinemia

    A high level of glycine in the body leads to a condition called nonketotic hyperglycinemia that primarily affects the nervous system. The disease onset occurs a few months after birth and has two forms: attenuated and severe. Early signs and symptoms are lethargy (which worsens over time and can lead to coma), life-threatening breathing difficulties, and weak muscle tone. The children who survive the early symptoms such as fee  Read More

  • Pineal cysts, symptomatic

    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

  • Spielmeyer-vogt 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 fatt  Read More

  • Spielmeyer-vogt-batten 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 fatt  Read More

  • Subacute sclerosing panencephalitis

    Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

  • Upper brachial plexus palsy, erb-duchenn...

    The nerve disorder of upper brachial plexus palsy, erb-duchenne causes weakness or loss of muscle function in the shoulder and arm. Five nerves that run from the spine to the arm and hand are together known as the brachial plexus. Your shoulder, arms, and hands can feel and move thanks to these nerves. Upper brachial plexus palsy, erb-duchenne is the medical term for when these brachial plexus nerves are damaged o  Read More

  • Von recklinghausen's disease

    Tumors develop on nerve tissue as a result of a series of hereditary diseases called von recklinghausen's disease. Anywhere in the neurological system, including the brain, spinal cord, and nerves, these tumors can form. Von recklinghausen's disease comes in three different forms: schwannomatosis, neurofibromatosis 1 (NF1), and neurofibromatosis 2 (NF2). While NF2 and schwannomatosis are typically detected in early adulthood,  Read More

  • Von recklinghausen's neurofibromatosis

    Risk factors of von recklinghausen's neurofibromatosis These are the risk factors - 1. A family history of von recklinghausen's neurofibromatosis is the main risk factor for the condition. About half of those with NF1 and NF2 received the condition from a parent who had it. People with NF1 and NF2 who do not have affected relatives are more likely to have a novel gene mutation. 2. Both NF  Read More