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(E75.4) Neuronal ceroid lipofuscinosis
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59 638 in individuals diagnosis neuronal ceroid lipofuscinosis confirmed
10 673 deaths with diagnosis neuronal ceroid lipofuscinosis
18% mortality rate associated with the disease neuronal ceroid lipofuscinosis
Diagnosis neuronal ceroid lipofuscinosis is diagnosed Men are 26.00% more likely than Women
37 571
Men receive the diagnosis neuronal ceroid lipofuscinosis
5 833 (15.5 %)Died from this diagnosis.
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22 067
Women receive the diagnosis neuronal ceroid lipofuscinosis
4 840 (21.9 %)Died from this diagnosis.
Risk Group for the Disease neuronal ceroid lipofuscinosis - 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 neuronal ceroid lipofuscinosis
Absence or low individual and public risk
Neuronal ceroid lipofuscinosis - what does this mean
Neuronal ceroid lipofuscinosis (ncl) is an inherited, progressive, neurodegenerative disorder caused by mutations in genes that are responsible for the lysosomal storage of lipids and proteins. this results in the accumulation of lipofuscin granules in the lysosomes of neurons, leading to cell death and the progressive deterioration of the nervous system.
What happens during the disease - neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis is a rare genetic disorder caused by mutations in the genes responsible for the production of certain enzymes. these mutations lead to the accumulation of lipopigment granules in the lysosomes of the neurons, resulting in the death of the neurons and progressive neurological deterioration. this leads to a decline in cognitive ability, motor function, and vision, ultimately resulting in death.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination to assess muscle tone and coordination
- Neurological exam to assess mental status, reflexes, and motor skills
- Blood tests to measure certain enzymes and proteins
- Genetic testing to identify mutations in the responsible genes
- Imaging tests such as an MRI or CT scan to look for abnormal brain structures
- Electroencephalogram (EEG) to measure electrical activity in the brain
- Optical coherence tomography (OCT) to measure retinal nerve fiber layer thickness
- Electrophysiological tests to measure the electrical activity of the muscles
Treatment and Medical Assistance
Main Goal: To reduce the severity of symptoms and slow the progression of Neuronal ceroid lipofuscinosis.
- Medication to reduce seizures
- Regular physical and occupational therapy
- Speech and language therapy
- Nutritional support
- Regular monitoring of vision and hearing
- Genetic counseling
- Psychosocial support
- Regular monitoring of physical and mental development
- Assistive technology to improve mobility and communication
30 Days of Hospitalization Required
203 Hours Required for Outpatient Treatment
Neuronal ceroid lipofuscinosis - Prevention
Neuronal ceroid lipofuscinosis can be prevented by avoiding environmental toxins, maintaining a healthy lifestyle, and getting regular check-ups. eating a balanced diet, exercising regularly, and avoiding smoking and alcohol can help reduce the risk of developing this condition. genetic testing can also be done to identify those at risk of the disorder.