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Laboratory of Veterinary Genetics For the genetic improvement of our domestic animals Sample Reception, CDEVQ Diagnostic Services Faculty of Veterinary Medicine University of Montreal, 3220 Sicotte
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Begin by obtaining a genetic test to confirm the diagnosis of GM2 gangliosidosis Burmese type.
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Individuals who are suspected to have GM2 gangliosidosis Burmese type based on symptoms or family history.
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GM2 gangliosidosis, Burmese type, is a rare genetic disorder caused by a deficiency of the enzyme Hexosaminidase A, leading to the accumulation of GM2 gangliosides in the brain and other tissues, resulting in neurological symptoms.
Individuals diagnosed with GM2 gangliosidosis, Burmese type, and their caretakers or healthcare providers may be required to file reports concerning the condition for research or healthcare documentation purposes.
To fill out a report for GM2 gangliosidosis, Burmese type, one should provide detailed medical history, genetic testing results, symptoms observed, and any treatment undertaken, typically following guidelines set by relevant health authorities.
The purpose of documenting GM2 gangliosidosis, Burmese type, is to aid in understanding the condition, track incidence and prevalence, facilitate research, and improve care strategies for affected individuals.
Required information typically includes patient demographics, genetic test results, clinical symptoms, treatment history, and any other relevant medical data.
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