Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Distal Motor Neuropathy
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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 ...

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Menkes Disease
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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 ...

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Medial Pontine Syndrome
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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 ...

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Medial Medullary Syndrome
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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 ...

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McLeod Syndrome
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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 ...

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MASA Syndrome
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MASA syndrome is a rare, inherited neurological condition named for the four hallmark problems doctors first noticed: Mental retardation (now called ...

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Marden–Walker Syndrome
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Marden–Walker syndrome is an extremely rare, inherited connective-tissue disorder first described in 1966 by physicians Marden and Walker. Only a few dozen ...

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Macrocephaly-Capillary Malformation
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Macrocephaly-Capillary Malformation is a rare genetic over-growth condition in which a baby is born with, or quickly develops, an unusually large head ...

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Lennox–Gastaut Syndrome (LGS)
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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) ...

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Bilateral Horizontal Gaze Palsy
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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 ...

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Lateral Spinothalamic Tract Infarct
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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 ...

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Medullary (Caudal) Ipsilateral Hemiplegia
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Medullary (Caudal) Ipsilateral Hemiplegia, often referred to as Opalski syndrome, is a rare form of brainstem stroke in which the infarct involves the lateral ...

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Midbrain (Caudal) Ipsilateral Hemiplegia
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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 ...

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Contralateral Hemiplegia
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Contralateral hemiplegia is a neurological condition characterized by complete or near-complete paralysis of one side of the body that occurs opposite ...

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Pure Dysarthria
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Pure dysarthria is a motor speech disorder characterized by impaired articulation, phonation, resonance, respiration, and/or prosody, without accompanying ...

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Dysarthria–Clumsy Hand Syndrome (DCHS)
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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 ...

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Pure Motor Hemiparesis (PMH)
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Pure Motor Hemiparesis (PMH) is a neurological condition in which a person suddenly develops weakness or partial paralysis on one entire side of the ...

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Lacunar Stroke Syndrome
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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. ...

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L1 Syndrome
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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 ...

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Korsakoff Syndrome
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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 ...

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