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(E76.8) Other disorders of glucosaminoglycan metabolism
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53 490 in individuals diagnosis other disorders of glucosaminoglycan metabolism confirmed
3 431 deaths with diagnosis other disorders of glucosaminoglycan metabolism
6% mortality rate associated with the disease other disorders of glucosaminoglycan metabolism
Diagnosis other disorders of glucosaminoglycan metabolism is diagnosed Men are 67.58% more likely than Women
44 819
Men receive the diagnosis other disorders of glucosaminoglycan metabolism
1 962 (4.4 %)Died from this diagnosis.
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8 671
Women receive the diagnosis other disorders of glucosaminoglycan metabolism
1 469 (16.9 %)Died from this diagnosis.
Risk Group for the Disease other disorders of glucosaminoglycan metabolism - Men aged 15-19 and Women aged 10-14
In Men diagnosis is most often set at age 0-34, 45-49, 60-64
Less common in men the disease occurs at Age 35-44, 50-59, 65-95+Less common in women the disease occurs at Age 0-1, 20-34, 40-49, 55-79, 85-95+
In Women diagnosis is most often set at age 0-19, 35-39, 50-54, 80-84
Disease Features other disorders of glucosaminoglycan metabolism
Absence or low individual and public risk
Other disorders of glucosaminoglycan metabolism - what does this mean
Other disorders of glucosaminoglycan metabolism are rare genetic disorders caused by mutations in the genes that encode enzymes used in the synthesis and degradation of glucosaminoglycans. these mutations lead to abnormal accumulation of these molecules in the body, which can lead to a variety of physical and neurological symptoms, including skeletal malformations, joint stiffness, and intellectual disability.
What happens during the disease - other disorders of glucosaminoglycan metabolism
Other disorders of glucosaminoglycan metabolism are a group of inherited metabolic disorders caused by the body's inability to break down certain complex carbohydrates known as glucosaminoglycans. this leads to an accumulation of these substances in the body, which can cause a variety of symptoms, including skeletal abnormalities, joint pain, and organ dysfunction. in some cases, the accumulation of these substances can lead to life-threatening complications.
Clinical Pattern
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How does a doctor diagnose
- Physical examination to assess signs and symptoms
- Blood tests to check for levels of enzymes and proteins involved in glucosaminoglycan metabolism
- Urinalysis to check for levels of certain metabolites
- Imaging tests such as MRI or CT scans to look for structural abnormalities
- Genetic testing to look for mutations in genes associated with glucosaminoglycan metabolism
- Tissue biopsy to look for abnormalities in the structure of the cells
Treatment and Medical Assistance
Main Goal: To treat Other Disorders of Glucosaminoglycan Metabolism
- Prescribe medications to manage symptoms
- Provide nutritional counseling and guidance
- Develop an individualized exercise plan
- Encourage lifestyle changes to reduce stress
- Refer to a physical therapist for specialized care
- Refer to a genetic counselor for genetic testing and counseling
- Refer to a dietician for dietary modifications
- Refer to an occupational therapist for assistance with daily activities
- Provide emotional support and counseling
9 Days of Hospitalization Required
303 Hours Required for Outpatient Treatment
Other disorders of glucosaminoglycan metabolism - Prevention
The prevention of other disorders of glucosaminoglycan metabolism is largely dependent upon early diagnosis and treatment of the underlying genetic condition. early diagnosis can be achieved through genetic testing and screening of family members. treatment is typically focused on providing the necessary enzymes or substrates to reduce symptoms and improve quality of life. additionally, regular monitoring and management of the condition is important to ensure that any changes in symptoms are identified and addressed in a timely manner.