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(Q77.5) Dystrophic dysplasia
More details coming soon
37 652 in individuals diagnosis dystrophic dysplasia confirmed
2 760 deaths with diagnosis dystrophic dysplasia
7% mortality rate associated with the disease dystrophic dysplasia
Diagnosis dystrophic dysplasia is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis dystrophic dysplasia
1 527 (10.3 %)Died from this diagnosis.
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22 828
Women receive the diagnosis dystrophic dysplasia
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease dystrophic dysplasia - Men aged 5-9 and Women aged 10-14
In Men diagnosis is most often set at age 0-19, 25-34
Less common in men the disease occurs at Age 20-24, 35-95+Less common in women the disease occurs at Age 40-44, 55-59, 70-79, 85-95+
In Women diagnosis is most often set at age 0-39, 45-54, 60-69, 80-84
Disease Features dystrophic dysplasia
Absence or low individual and public risk
Dystrophic dysplasia - what does this mean
Dystrophic dysplasia is a rare genetic disorder characterized by abnormal bone formation. it is caused by mutations in the col1a1 and col1a2 genes, which are responsible for the production of type i collagen, a protein that is essential for the growth and development of bones and other connective tissue. this mutation leads to an abnormal production of collagen, causing the bones to become brittle and break easily.
What happens during the disease - dystrophic dysplasia
Dystrophic dysplasia is a genetic disorder caused by a mutation in the col1a1 or col1a2 genes, which are responsible for producing collagen type 1. this mutation results in abnormal collagen production, leading to weakened bones and joints, as well as fragile skin and other connective tissues. this can lead to joint pain, skeletal deformities, and other health issues.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Genetic testing
- X-ray imaging
- Magnetic resonance imaging (MRI)
- Computed tomography (CT) scan
- Ultrasound
- Prenatal testing
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Dystrophic Dysplasia and improve the quality of life of the patient.
- Prescribe medications to reduce pain, inflammation, and joint stiffness.
- Physical therapy to improve joint flexibility, strength, and coordination.
- Occupational therapy to help the patient adapt to everyday activities.
- Surgery to correct joint deformities and improve mobility.
- Counseling to help the patient cope with the emotional and psychological aspects of the condition.
- Assistive devices such as wheelchairs, walkers, and braces to improve mobility.
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Dystrophic dysplasia - Prevention
Dystrophic dysplasia can be prevented by avoiding exposure to environmental toxins, maintaining a healthy diet, and engaging in regular physical activity. additionally, it is important to practice safe sex and receive all recommended vaccinations to avoid infection and disease.