About The Medical Condition Ophthalmoplegias, Supraoptic Vertical
Find the definition of the medical term Ophthalmoplegias, Supraoptic Vertical. Ophthalmoplegias, Supraoptic Vertical defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Ophthalmoplegias, Supraoptic Vertical
| Ophthalmoplegias, Supraoptic Vertical Medical Condition |
|---|
What's The Definition Of The Medical Condition Ophthalmoplegias, Supraoptic Vertical?
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
- Proteins, Encephalitogenic Basic ‐ A group of 7 proteins produced from a single gene by alternate…
- Dicarboxylate Carrier ‐ A family of ORGANIC ION TRANSPORTERS that specifically transport…
- Brainstem Neoplasms, Primary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Long-Term Care Insurance ‐ Health insurance to provide full or partial coverage for long-term…
- Unilateral Headache ‐ Pain in the cranial region that may occur as an isolated and…
- Postoperative Pains ‐ Pain during the period…
- Platelet Transforming Growth Factor ‐ A factor synthesized in a wide variety of tissues. It acts synergistically…
- Frontal Gait ‐ Gait abnormalities that are a manifestation of nervous system…
- Compression, Spinal Cord ‐ Acute and chronic conditions characterized by external mechanical…
- Disturbances, Menstruation ‐ Variations of menstruation which may be indicative…