About The Medical Condition Supraoptic Vertical Ophthalmoplegias
Find the definition of the medical term Supraoptic Vertical Ophthalmoplegias. Supraoptic Vertical Ophthalmoplegias defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Supraoptic Vertical Ophthalmoplegias
| Supraoptic Vertical Ophthalmoplegias Medical Condition |
|---|
What's The Definition Of The Medical Condition Supraoptic Vertical Ophthalmoplegias?
A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile, late infantile, juvenile, and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes, Textbook of Child Neurology, 5th ed, pp101-4)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Dental Prosthesis, Surgical ‐ Biocompatible materials placed into (endosseous) or onto (subperiosteal)…
- Baclofen Receptor ‐ Cell surface proteins which bind GAMMA-AMINOBUTYRIC ACID and…
- Ligases, Acid-Amino-Acid ‐ Enzymes that catalyze the joining of an acid and an amino acid…
- Density, Cell ‐ A count of the number of cells of a specific kind, usually measured…
- Optic Nerve ‐ The 2nd cranial nerve. The optic nerve conveys visual information…
- Deoxyribonucleoproteins ‐ Proteins conjugated with deoxyribonucleic acids (DNA) or specific…
- Acute Intermittent Porphyrias ‐ A form of hepatic porphyria (PORPHYRIA, HEPATIC) characterized…
- Mirror Writing ‐ Dominance of one cerebral hemisphere over the other in cerebral…
- Dental Soldering ‐ The joining of pieces of metal through the use of an alloy which…
- Rimantadine Hydrochloride ‐ An RNA synthesis inhibitor that is used as an antiviral agent…