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Spielmeyer-Vogt Disease



Spielmeyer-Vogt Disease Causes


Spielmeyer-Vogt disease can be inherited in an autosomal recessive pattern. Six genes have now been defined to cause Spielmeyer-Vogt disease both in children and adults.


Spielmeyer-Vogt Disease Definition


Spielmeyer-Vogt disease is a progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapacitation within years and death within 10-15 years. It is the most common type of a group of disorders called neuronal ceroid lipofuscinosis (NCLs). The disease is also known as Batten disease.


Spielmeyer-Vogt Disease Diagnosis


Diagnosis is based on the amount of deposits present in the skin samples in combination with other symptoms and criteria.


Spielmeyer-Vogt Disease Symptoms and Signs


Early symptoms of Spielmeyer-Vogt disease normally begins to show between the ages of four to ten including the following: • Vision problems • Seizures • Learning delays • Echolalia or repeating the words spoken • Stumbling or clumsiness • Poor circulation in hands and feet • Shrinkage of body fat and muscle mass • Breath holding periods • Spine curvature • Constipation • Teeth grinding As time pass, children with Spielmeyer-Vogt disease will experience worsening symptoms including progressive loss of sight, mental impairment, and seizures get worse. Additionally, speech and motor skills may be loss gradually.


Spielmeyer-Vogt Disease Treatment


Clinical trials were made to study a gene therapy method and neural stem cell injections in the brain of a suffering individual. Though the two have gained quite favorable results, there is still no established evidence that it can accurately cure Spielmeyer-Vogt disease.


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