Distal Motor Neuropathy
Distal motor neuropathy (DMN) is an umbrella term for a family of disorders in which the longest motor nerves in the body—those that control the small muscles of the feet, lower legs, hands and ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Menkes Disease
Menkes disease—sometimes called “kinky hair syndrome”—is a rare, inherited disorder in which the body cannot move the mineral copper to the organs that desperately need it, such as the brain, bones, ...
Medial Pontine Syndrome
Medial pontine syndrome is a specific kind of brain-stem stroke that damages the inner (medial) part of the pons—an egg-shaped bridge of nerve tissue that sits between the mid-brain and medulla. The ...
Medial Medullary Syndrome
Medial medullary syndrome is a rare but striking kind of brain-stem stroke. It happens when blood flow through tiny branches of the vertebral or anterior spinal artery suddenly stops, starving the ...
McLeod Syndrome
McLeod Syndrome is a very rare, X-linked, multi-system disorder caused by loss-of-function variants in the XK gene. The defect removes the Kx transmembrane protein from red-blood-cell membranes, ...
MASA Syndrome
MASA syndrome is a rare, inherited neurological condition named for the four hallmark problems doctors first noticed: Mental retardation (now called intellectual disability), Aphasia (difficulty ...
Marden–Walker Syndrome
Marden–Walker syndrome is an extremely rare, inherited connective-tissue disorder first described in 1966 by physicians Marden and Walker. Only a few dozen families have been reported worldwide, so ...
Macrocephaly-Capillary Malformation
Macrocephaly-Capillary Malformation is a rare genetic over-growth condition in which a baby is born with, or quickly develops, an unusually large head (macrocephaly/megalencephaly) together with ...
Lennox–Gastaut Syndrome (LGS)
Lennox-Gastaut syndrome is a rare but very severe childhood-onset epilepsy that keeps affecting people throughout life. Doctors recognise it by a “triad”: (1) many different seizure types, especially ...
Bilateral Horizontal Gaze Palsy
Bilateral horizontal gaze palsy is a neurological condition in which a person loses the ability to move both eyes side to side (horizontally) in a coordinated fashion. In healthy individuals, ...
Lateral Spinothalamic Tract Infarct
The lateral spinothalamic tract is a crucial highway in your spinal cord that carries pain and temperature signals from your body to your brain. When this pathway suffers an interruption of blood ...
Medullary (Caudal) Ipsilateral Hemiplegia
Medullary (Caudal) Ipsilateral Hemiplegia, often referred to as Opalski syndrome, is a rare form of brainstem stroke in which the infarct involves the lateral aspect of the lower (caudal) medulla ...
Midbrain (Caudal) Ipsilateral Hemiplegia
Midbrain (Caudal) Ipsilateral Hemiplegia is a rare neurological condition characterized by paralysis of one side of the body (hemiplegia) on the same side as a lesion in the lower (caudal) portion of ...
Contralateral Hemiplegia
Contralateral hemiplegia is a neurological condition characterized by complete or near-complete paralysis of one side of the body that occurs opposite (contra-) to the side of the brain where the ...
Pure Dysarthria
Pure dysarthria is a motor speech disorder characterized by impaired articulation, phonation, resonance, respiration, and/or prosody, without accompanying language deficits. It often results from ...
Dysarthria–Clumsy Hand Syndrome (DCHS)
Dysarthria–Clumsy Hand Syndrome (DCHS) is a small-vessel (“lacunar”) stroke syndrome in which a pinpoint blockage deep inside the brain injures the fibres that coordinate fine hand movement and the ...
Pure Motor Hemiparesis (PMH)
Pure Motor Hemiparesis (PMH) is a neurological condition in which a person suddenly develops weakness or partial paralysis on one entire side of the body—including the face, arm, and leg—without any ...
Lacunar Stroke Syndrome
A lacunar stroke is a small, deep brain infarct—usually less than 15 mm across—that occurs when one of the brain’s tiny “penetrating” arteries becomes blocked. Because these vessels dive straight ...
L1 Syndrome
L1 syndrome, also called the L1CAM-related disorder spectrum, is a group of inherited conditions caused by pathogenic changes in the L1 cell-adhesion-molecule (L1CAM) gene on the X-chromosome. The L1 ...
Korsakoff Syndrome
Korsakoff syndrome is a chronic, long-lasting brain disorder that develops when the body has been severely short of vitamin B-1 (thiamine) for an extended period. Without thiamine, brain cells cannot ...
