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(Q85) Phakomatoses, not elsewhere classified
More details coming soon
251 192 in individuals diagnosis phakomatoses, not elsewhere classified confirmed
6 883 deaths with diagnosis phakomatoses, not elsewhere classified
3% mortality rate associated with the disease phakomatoses, not elsewhere classified
Diagnosis phakomatoses, not elsewhere classified is diagnosed Men are 3.65% more likely than Women
130 179
Men receive the diagnosis phakomatoses, not elsewhere classified
3 248 (2.5 %)Died from this diagnosis.
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Women receive the diagnosis phakomatoses, not elsewhere classified
3 635 (3.0 %)Died from this diagnosis.
Risk Group for the Disease phakomatoses, not elsewhere classified - Men and Women aged 0-5
In Men diagnosis is most often set at age 0-74
Less common in men the disease occurs at Age 75-95+Less common in women the disease occurs at Age 80-95+
In Women diagnosis is most often set at age 0-79
Disease Features phakomatoses, not elsewhere classified
Absence or low individual and public risk
Phakomatoses, not elsewhere classified - what does this mean
Phakomatoses, not elsewhere classified, is a group of rare genetic disorders characterized by the presence of various types of tumors and birthmarks. these tumors and birthmarks can affect the skin, eyes, brain, and other organs. the exact cause of these disorders is not known, but they are believed to be caused by genetic mutations.
What happens during the disease - phakomatoses, not elsewhere classified
Phakomatoses, not elsewhere classified is a group of rare neurological disorders characterized by the presence of tumors on the nervous system. the exact cause of these conditions is unknown, but it is believed to be the result of a combination of genetic and environmental factors. the tumors can cause a variety of neurological symptoms, including seizures, behavioral changes, and motor and sensory deficits.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Medical history review
- Physical examination
- Neurological examination
- Imaging studies such as CT, MRI, or PET scans
- Laboratory tests such as blood or urine tests
- Genetic testing
- Electroencephalography (EEG)
- Electromyography (EMG)
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Phakomatoses, not elsewhere classified.
- Prescribing medications to reduce inflammation and pain
- Physical therapy to improve mobility and reduce pain
- Occupational therapy to help with daily activities
- Counseling to help with stress and anxiety
- Surgery to remove tumors or damaged tissue
- Radiation therapy to destroy cancerous cells
- Stem cell therapy to replace damaged cells
- Gene therapy to correct genetic abnormalities
8 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Phakomatoses, not elsewhere classified - Prevention
Phakomatoses, not elsewhere classified, can be prevented by avoiding direct contact with individuals who have the disease, practicing good hygiene, and receiving vaccinations when available.