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(E75.0) Gm 2 gangliosidosis
More details coming soon
59 638 in individuals diagnosis gm 2 gangliosidosis confirmed
10 673 deaths with diagnosis gm 2 gangliosidosis
18% mortality rate associated with the disease gm 2 gangliosidosis
Diagnosis gm 2 gangliosidosis is diagnosed Men are 26.00% more likely than Women
37 571
Men receive the diagnosis gm 2 gangliosidosis
5 833 (15.5 %)Died from this diagnosis.
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Women receive the diagnosis gm 2 gangliosidosis
4 840 (21.9 %)Died from this diagnosis.
Risk Group for the Disease gm 2 gangliosidosis - Men and Women aged 5-9
In Men diagnosis is most often set at age 0-79
Less common in men the disease occurs at Age 80-95+Less common in women the disease occurs at Age 70-95+
In Women diagnosis is most often set at age 0-69
Disease Features gm 2 gangliosidosis
Absence or low individual and public risk
Gm 2 gangliosidosis - what does this mean
Gm 2 gangliosidosis is caused by a deficiency of an enzyme called beta-hexosaminidase, which leads to the accumulation of gm2 ganglioside in the cells of the body. this accumulation leads to the destruction of nerve cells in the brain and other organs, resulting in progressive mental and physical disability.
What happens during the disease - gm 2 gangliosidosis
Gm 2 gangliosidosis is a genetic disorder caused by a deficiency of the enzyme beta-hexosaminidase a, resulting in the accumulation of gm2 ganglioside in cells throughout the body. this accumulation leads to progressive damage to the nervous system, including the brain and spinal cord, resulting in neurological symptoms such as muscle weakness, seizures, and cognitive impairment.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Neurological assessment
- CT scan
- MRI scan
- Genetic testing
- Urine analysis
- Blood tests
- Lumbar puncture
- Electroencephalogram (EEG)
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms and slow the progression of GM 2 gangliosidosis.
- Prescribe drugs to reduce the accumulation of toxic substances in the body.
- Provide physical therapy to help maintain muscle strength and flexibility.
- Provide speech therapy to help improve communication skills.
- Prescribe medications to reduce seizures.
- Provide nutritional counseling to ensure the patient is getting the right nutrients.
- Provide psychological counseling to help the patient and family cope with the diagnosis.
- Provide genetic counseling to help the patient and family understand the condition.
30 Days of Hospitalization Required
203 Hours Required for Outpatient Treatment
Gm 2 gangliosidosis - Prevention
Gm 2 gangliosidosis can be prevented through genetic counselling and screening for carriers of the mutated gene, as well as prenatal testing for those at risk of having a child with the condition.