what is morquio syndrome type a?
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Morquio syndrome is a rare genetic condition that affects a child's bones and spine, organs and physical abilities. Children with this condition are missing or don't produce enough of the enzymes that break down sugar chains naturally produced in the body.
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This syndrome has two forms, A and B, referred to as Morquio A and Morquio B syndrome or MPS IVA and MPS IVB. The two forms are distinguished by the gene product involved; Type A involves a malfunction in the GALNS gene, while Type B involves a malfunction of the GLB1 gene.
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MalaCards based summary : Cauda Equina Syndrome, also known as polyradiculopathy, is related to spinal disease and radiculopathy. An important gene associated with Cauda Equina Syndrome is RPL34 (Ribosomal Protein L34).
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Gangliosidosis-1 (GM-1) is a progressive neurological genetic disorder caused by the absence of a vital enzyme. It is one of over 50 genetically inherited disorders known as Lysosomal Storage Diseases.
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Myasthenia gravis. Myasthenia gravis (MG) is a long-term neuromuscular disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking.
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The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.
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Arpoya is used to treat adults and adolescents aged 15 years and older who suffer from a disease characterized by symptoms such as hearing, seeing or sensing things which are not there, suspiciousness, mistaken beliefs, incoherent speech and behaviour and emotional flatness.
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The gray baby syndrome is a type of circulatory collapse that can occur in premature and newborn infants and is associated with excessively high serum levels of chloramphenicol. 425. It is characterized by an ashen-gray color, abdominal distention, vomiting, flaccidity, cyanosis, circulatory collapse, and death.
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Polymorphous light eruption, also known as polymorphic light eruption, is a rash caused by sun exposure in people who have developed sensitivity to sunlight. The rash usually appears as red, tiny bumps or slightly raised patches of skin.
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Myasthenia gravis (MG) is a long-term neuromuscular disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking.
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The genetic mutation causing the short-legged trait in Munchkins is referred to as achondroplasia, the genetic disorder that results in dwarfism and is typically associated with an enlarged head as well as short legs but can also involve symptoms include undersized jaw, thick-looking joints, curved spine, and bow- ...
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The Myotonic or Tennessee Fainting is an American breed of meat goat. It is characterised by myotonia congenita, a hereditary condition which may cause it to stiffen or fall over when startled. It may also be known as the Fainting, Falling , Stiff-legged or Nervous goat, or as the Tennessee Wooden Leg.
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Listen. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability , and respiratory problems.
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Morgellons disease (MD) is a rare disorder characterized by the presence of fibers underneath, embedded in, and erupting from unbroken skin or slow-healing sores. Some people with the condition also experience a sensation of crawling, biting, and stinging on and in their skin. These symptoms can be very painful.
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The azygos (venous) system is a collective term given to the H-shaped configuration of the azygos, hemiazygos, accessory hemiazygos veins and left superior intercostal vein. It is responsible for draining the thoracic wall and upper lumbar region via the lumbar veins and posterior intercostal veins 1.
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Livedo reticularis is thought to be due to spasms of the blood vessels or an abnormality of the circulation near the skin surface. It makes the skin, usually on the legs, look mottled and purplish, in sort of a netlike pattern with distinct borders. Sometimes livedo reticularis is simply the result of being chilled.
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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease in Boxer Dogs and results in unique right ventricular fibrofatty infiltration and ventricular arrhythmias. The condition was initially described in 1983 as a disease associated with ventricular ectopy, syncope, and sudden death.