Syndromes affecting the nervous system

chromosomal condition

autoimmune disease that causes the immune system to attack part of the peripheral nervous system

medical condition due to compression of the median nerve as it travels through the wrist at the carpal tunnel

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression

genetic brain disorder

genetic condition in humans

mental illness caused by a lack of thiamine in the brain

human medical condition

human disease

congenital disorder of nervous system

rare neurologic disorder characterized by progressive rigidity and stiffness in truncal muscles, spasms, postural deformities, chronic pain, impaired mobility, and lumbar hyperlordosis

neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm

disease characterized by miosis (a constricted pupil), partial ptosis (a weak, droopy eyelid), apparent anhydrosis (decreased sweating), with apparent enophthalmos (inset eyeball)

nerve damage at the end of the spinal cord

human disease

rare disease

congenital disorder of nervous system

syndrome where people perceive loud imagined noises when falling asleep or waking up

genetic disorder involving capillaries

epilepsy characterized by frequent febrile seizures and with onset before 1 year

prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain

rare genetic syndrome

Human disease

combined presence of Wernicke's encephalopathy (WE) and Korsakoff's syndrome

Lethal autosomal recessive disorder

rare but severe childhood-onset epilepsy

neurological and skin disorder associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations

congenital disorder of nervous system

Neurosyphilis is the infection of the central nervous system by Treponema pallidum, the bacterium that causes the sexually transmitted infection syphilis. In the era of modern antibiotics, the majority of neurosyphilis cases have been reported in HIV-infected patients.

disorder that is caused by the reactivation of varicella zoster virus in the geniculate ganglion, a nerve cell bundle of the facial nerve

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents the repair of broken DNA, increasing the risk of cancer.

syndrome resulting from bilateral lesions of the medial temporal lobe

uncommon and incompletely understood triad of severe neuropsychological impairments

ciliopathic human genetic disorder that produces many effects and affects many body systems

nervous system disease that results from damage located in left parietal lobe, has symptom agraphia, has symptom acalculia, has symptom finger agnosia

rare and fatal autosomal recessive neurodegenerative disorder

neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13

an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase

autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life

unrelated neurological syndromes described by James Ramsay Hunt

a rare, genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement

neurological disorder characterized by a tonically dilated pupil

human disease

neurological disorder causing a range of symptoms due to ischemia in the lateral part of the medulla oblongata in the brainstem

group of potentially disabling signs and symptoms that appear decades after the initial poliomyelitis illness

genetic disorder affecting the cerebellum

syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye

Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

inability to move eyes up and down

medical condition

medical condition

autosomal recessive form of ichthyosis apparent at birth

rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip - cheilitis granulomatosis) and the development of folds and furrows in the tongue (fissured tongue)

a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body

genetic disorder that affects the skin, hair, teeth, nails, and central nervous system

congenital disorder in humans caused by abnormal fetal development of the lower spine

human disease

a rare genetic neurodevelopmental disorder

medical condition