Chronic Inherited Sensory Ataxic Neuropathy is a group of long-term genetic disorders in which the sensory nerves—those that carry information about touch, pain, temperature, and body position—from ...
Sensory ataxic neuropathy is a disorder in which damage to sensory nerves—particularly the large myelinated fibers responsible for proprioception—disrupts the brain’s ability to know where the limbs ...
Schimmelpenning‐Feuerstein‐Mims syndrome is a rare, congenital neurocutaneous disorder characterized by the presence of sebaceous nevi—hamartomatous skin lesions involving epidermal, follicular, ...
Linear nevus sebaceous syndrome (LNSS), also known as Schimmelpenning syndrome, is a rare congenital condition characterized by a distinctive, hairless, yellow‐orange skin lesion called a nevus ...
Schimmelpenning syndrome (also known as linear nevus sebaceous syndrome or Schimmelpenning‐Feuerstein‐Mims syndrome) is a rare, congenital neurocutaneous disorder marked by the presence of one or ...
Rett syndrome is a rare genetic disorder that primarily affects girls. In early infancy (the first 6–18 months), development appears normal. After this period, children begin to lose skills they once ...
Ramsay Hunt syndrome type 2—also known as herpes zoster oticus—is a neurological disorder caused by reactivation of the varicella-zoster virus (VZV) in the geniculate ganglion of the facial nerve. It ...
Artisan’s Palsy is a type of occupational neuropathy affecting the deep palmar branch of the ulnar nerve at the wrist. It is also known as Ramsay Hunt syndrome type 3 or Hunt’s disease. In this ...
Dentatorubral–pallidoluysian atrophy (DRPLA), often called Dentatorubral Degeneration, is a rare, inherited neurodegenerative disorder characterized by progressive damage to specific brain ...
Dyssynergia Cerebellaris Myoclonica is a rare neurological condition characterized by involuntary, shock-like muscle jerks (myoclonus) superimposed on poor coordination (dyssynergia) due to ...
Ramsay Hunt Cerebellar Syndrome is a rare degenerative disorder of the cerebellum first described by James Ramsay Hunt. It is characterized by a combination of involuntary muscle jerks, tremor, and ...
Ramsay Hunt syndrome is an acute neurological condition caused by reactivation of the varicella-zoster virus (the same virus behind chickenpox) within the geniculate ganglion of the facial nerve. ...
Radiologically Isolated Syndrome (RIS) refers to the incidental finding of magnetic resonance imaging (MRI) abnormalities suggestive of multiple sclerosis (MS) in individuals who have never ...
PrP systemic amyloidosis is an exceptionally rare inherited disorder characterized by the extracellular deposition of misfolded prion protein (PrP) fibrils in multiple organs and peripheral nerves. ...
Proud syndrome is an exceptionally rare genetic disorder that falls under the category of syndromic X-linked intellectual disabilities. It is caused by mutations in the ARX (aristaless-related ...
Pourfour du Petit syndrome (PdPS), also called “reverse Horner syndrome,” is a rare neurological disorder characterized by overstimulation of the oculosympathetic pathway on one side of the head. ...
