Prion Diseases
Prion diseases, also known as transmissible spongiform encephalopathies (TSEs), are a group of rare, progressive neurodegenerative disorders caused by misfolded forms of the normal prion protein ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Familial Alzheimer-Like Prion Disease
Familial Alzheimer-like prion disease is an exceptionally rare, inherited prion disorder characterized by the accumulation of abnormal prion protein (PrP) in the brain alongside neurofibrillary ...
Primary Familial Brain Calcification
Primary familial brain calcification—sometimes still called Fahr’s disease—is a rare, inherited neuro-degenerative condition in which calcium crystals slowly build up in deep-brain regions such as ...
Chronic Exploding Head Syndrome
Chronic Exploding Head Syndrome (EHS) is a benign sensory parasomnia characterized by the perception of a sudden, loud noise—often described as an explosion, gunshot, or thunder—occurring during the ...
Hypnopompic Exploding Head Syndrome
Exploding head syndrome (EHS) is a benign sensory parasomnia in which an individual perceives a sudden, loud noise—often described as an explosion, gunshot, or thunderclap—in the ...
Hypnagogic Exploding Head Syndrome
Hypnagogic Exploding Head Syndrome, often called EHS, is a benign sleep-related disorder in which a person perceives a sudden, loud noise—such as an explosion, gunshot, or thunder—just as they are ...
Exploding Head Syndrome
Exploding Head Syndrome (EHS) is a benign parasomnia characterized by the perception of a sudden loud noise or explosive sensation in the head during transitions between sleep and wakefulness. ...
Epilepsy–Intellectual Disability
Epilepsy with intellectual disability is a complex neurological condition in which recurrent, unprovoked seizures occur alongside significant limitations in intellectual functioning and adaptive ...
EAST Syndrome
EAST syndrome (also known as SeSAME syndrome) is a rare, inherited disorder defined by the combination of four key features: Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (renal ...
Sensorimotor Dyschiria
Sensorimotor Dyschiria is a rare neurological syndrome characterized by an individual’s inability to recognize, localize, or respond appropriately to sensory stimuli on one side of the body, coupled ...
Dysesthesic Dyschiria
Dysesthesic Dyschiria is a rare neurological condition in which a person experiences unpleasant, abnormal sensations (dysesthesia) that are misperceived in space or on the wrong side of the body ...
Synchiria
Synchiria is a rare but striking sensory-mapping error in which a single stimulus applied to one side of the body is experienced on both sides at the same symmetrical spot. Imagine lightly brushing ...
Allochiria
Allochiria (sometimes called “allocheiria” or grouped under the broader heading of dyschiria) is a rare neuro-sensory phenomenon in which a person feels, sees, or hears something on the wrong side of ...
Dyschiria
Dyschiria is a rare but fascinating disorder of body perception in which the brain misplaces touch, pain, temperature, or movement sensations. In a healthy nervous system, a light tap on the right ...
Dravet Syndrome
Dravet syndrome (DS) is a rare, lifelong, developmental epileptic encephalopathy that usually first appears between three and twelve months of age as frighteningly long (“status-like”) febrile or ...
Astereognosis
Astereognosis is the neurological condition in which a person loses the ability to recognize objects by touch, despite having intact basic sensory functions such as touch, pressure, temperature, and ...
Visual Agnosia
Visual agnosia is a higher-level visual-processing disorder in which the eyes work, the primary visual cortex receives images, yet the brain cannot correctly recognise what is seen. People may stare ...
Disconnection Syndrome
Disconnection syndrome refers to a group of neurological conditions that arise when communication pathways in the brain become interrupted. Rather than damage to a specific functional area, these ...
Diencephalic Obesity Syndrome
Diencephalic Obesity Syndrome—often used interchangeably with hypothalamic obesity—is a rare disorder in which damage to the diencephalon (particularly the hypothalamus) disrupts the normal ...
Dialysis Disequilibrium Syndrome
Dialysis disequilibrium syndrome (DDS) is a set of neurological symptoms that occur during or shortly after hemodialysis, most often when dialysis is first started in uremic patients. It arises ...
