Hemorrhagic Parinaud’s Syndrome
Hemorrhagic Parinaud’s Syndrome is a rare neurological condition caused by bleeding in the dorsal midbrain region, where important centers for eye movement and pupil control reside. In simple terms, ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Demyelinating Parinaud’s Syndrome
Demyelinating Parinaud’s Syndrome is a neurological condition in which the protective myelin sheath surrounding nerve fibers in the dorsal midbrain becomes damaged. This damage disrupts the normal ...
Hydrocephalic Parinaud’s Syndrome
Hydrocephalic Parinaud’s Syndrome is a neurological condition in which enlarged ventricles from excess cerebrospinal fluid (CSF) place pressure on the dorsal midbrain, leading to the classic signs of ...
Vascular (Stroke-Induced) Parinaud’s Syndrome
Parinaud’s syndrome, also known as dorsal midbrain syndrome, arises when a stroke damages the dorsal midbrain (tectal plate), disrupting vertical gaze centers, the pupillary light reflex pathway, and ...
Neoplastic (Tumor-Related) Parinaud’s Syndrome
Parinaud’s syndrome—also called dorsal midbrain syndrome—is a group of eye-movement and pupil abnormalities caused by lesions in the dorsal midbrain, most often from tumors compressing the tectal ...
Parinaud’s Syndrome
Parinaud’s syndrome, also known as dorsal midbrain syndrome or vertical gaze palsy, is a group of eye movement and pupil abnormalities caused by injury to the dorsal part of the midbrain. It is named ...
Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited disorder of the nervous system characterized by progressive iron accumulation in specific brain regions. At its core, PKAN ...
Okamoto Syndrome
Okamoto syndrome, also known as Au–Kline syndrome (AKS), is an extremely rare autosomal dominant genetic disorder characterized by a constellation of congenital anomalies affecting multiple organ ...
Neu–Laxova Syndrome
Neu–Laxova syndrome (NLS) is a rare, fatal, autosomal recessive disorder characterized by severe intrauterine growth restriction, distinctive facial malformations, and multiple congenital anomalies. ...
Nerve Compression Syndrome
Nerve compression syndrome—also known as entrapment neuropathy or compression neuropathy—is a condition in which chronic pressure on a peripheral nerve leads to pain, numbness, tingling, and muscle ...
Neck-Tongue Syndrome
Neck-tongue syndrome (NTS) is a rare neurological disorder characterized by sudden, sharp pain in the upper neck or occipital region triggered by rapid head rotation, accompanied by sensory ...
Mowat–Wilson Syndrome
Mowat–Wilson syndrome (MWS) is a rare genetic disorder caused by loss-of-function changes in the ZEB2 gene on chromosome 2q22.3. It was first delineated in 1998 by Drs. David Mowat and Meredith ...
Moebius Syndrome
Moebius syndrome is a rare congenital condition characterized by underdevelopment or absence of the sixth (abducens) and seventh (facial) cranial nerves. This leads to facial paralysis—often ...
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) is an autosomal-recessive disease caused by mutations in the nuclear gene TYMP, which encodes the enzyme thymidine phosphorylase. Without ...
Mitochondrial Membrane Protein–Associated Neurodegeneration (MPAN)
Mitochondrial membrane protein-associated neurodegeneration (MPAN), sometimes referred to as mitochondrial membrane protein-associated syndrome, is a rare inherited disorder of the nervous system. It ...
Mismatch Repair Cancer Syndrome
Mismatch repair cancer syndrome (MMRCS), also known as Turcot syndrome or constitutional mismatch repair-deficiency (CMMRD) syndrome when referring to biallelic mutations, is a rare inherited ...
Millard–Gubler Syndrome
Millard–Gubler syndrome (MGS), also known as facial abducens hemiplegia syndrome or ventral pontine syndrome, is a rare crossed brainstem syndrome caused by a unilateral lesion in the basal portion ...
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly-Albinism-Digital Anomalies Syndrome (also called Castro Gago–Pombo–Novo syndrome) is an extremely rare, presumably autosomal-recessive condition in which three striking birth‐defect ...
Vasculitic Pure Motor Neuropathy
Vasculitic Pure Motor Neuropathy (V-PMN) is a rare but disabling nerve disorder caused by inflammation of the very small blood vessels (the vasa nervorum) that feed your motor nerves. Because those ...
Thyrotoxic Distal Neuropathy
Thyrotoxic distal neuropathy is a type of peripheral nerve injury caused or worsened by thyrotoxicosis—a state of excess circulating thyroid hormones (T₃ and T₄). Because nerve fibers in the feet and ...
