Smith–Lemli–Opitz syndrome (SLOS)
Smith–Lemli–Opitz syndrome (SLOS) is a rare inherited disorder of cholesterol metabolism that presents at birth with a wide spectrum of physical malformations, intellectual disability, and behavioral ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Skraban–Deardorff Syndrome
Skraban–Deardorff syndrome (also known as WDR26-related disorder or Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features) is a rare, autosomal-dominant ...
Hereditary Sensory and Autonomic Neuropathies (HSAN)
Hereditary Sensory and Autonomic Neuropathies (HSAN) are a group of rare, inherited disorders characterized by progressive dysfunction of sensory and autonomic nerve fibers. In HSAN, genetic ...
Infectious Ganglionopathy
Infectious ganglionopathy is a medical condition characterized by inflammation and dysfunction of sensory or autonomic ganglia—the clusters of nerve cell bodies located outside the central nervous ...
Autoimmune (Non-Paraneoplastic) Ganglionopathy
Autoimmune (non-paraneoplastic) ganglionopathy is a rare neurological disorder in which the body’s immune system mistakenly targets and damages the autonomic and sensory ganglia—clusters of nerve ...
Paraneoplastic Ganglionopathy
Paraneoplastic ganglionopathy is a rare neurological disorder in which the body’s immune response against a hidden (occult) cancer mistakenly attacks the autonomic ganglia—clusters of nerve cells ...
Autonomic Ganglionopathy
Autonomic ganglionopathy is a rare disorder affecting the autonomic nervous system (ANS), specifically targeting the autonomic ganglia—clusters of nerve cells that relay signals between the brain, ...
Chronic Ataxic Neuropathy with Disialosyl Antibodies (CANDA)
Chronic Ataxic Neuropathy with Disialosyl Antibodies (CANDA) is a rare, immune-mediated peripheral neuropathy characterized by progressive problems with coordination (ataxia) and sensory loss in the ...
CANOMAD Syndrome
CANOMAD syndrome is a rare, chronic immune-mediated demyelinating polyneuropathy. The name “CANOMAD” is an acronym for Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold ...
Ganglionopathy
Ganglionopathy, also known as neuronopathy, is a group of disorders characterized by the primary degeneration or dysfunction of neuronal cell bodies located in peripheral ganglia. In sensory ...
Mitochondrial SANDO Syndrome
Mitochondrial SANDO Syndrome—short for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis—is a very rare, adult-onset mitochondrial disorder. It belongs to the ataxia–neuropathy spectrum ...
Chronic Inherited Sensory Ataxic Neuropathy
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
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
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)
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
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
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
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
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)
Dentatorubral–pallidoluysian atrophy (DRPLA), often called Dentatorubral Degeneration, is a rare, inherited neurodegenerative disorder characterized by progressive damage to specific brain ...
