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(G11.4) Hereditary spastic paraplegia
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149 554 in individuals diagnosis hereditary spastic paraplegia confirmed
16 151 deaths with diagnosis hereditary spastic paraplegia
11% mortality rate associated with the disease hereditary spastic paraplegia
Diagnosis hereditary spastic paraplegia is diagnosed Men are 20.27% more likely than Women
89 937
Men receive the diagnosis hereditary spastic paraplegia
8 312 (9.2 %)Died from this diagnosis.
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59 617
Women receive the diagnosis hereditary spastic paraplegia
7 839 (13.1 %)Died from this diagnosis.
Risk Group for the Disease hereditary spastic paraplegia - Men aged 45-49 and Women aged 55-59
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 0-1, 95+Less common in women the disease occurs at Age 0-1, 90-95+
In Women diagnosis is most often set at age 0-89
Disease Features hereditary spastic paraplegia
Absence or low individual and public risk
Hereditary spastic paraplegia - what does this mean
Hereditary spastic paraplegia is a genetic disorder caused by mutations in any one of more than 70 genes. it is characterized by progressive weakness and stiffness in the lower limbs and can lead to difficulty with walking, balance, and coordination.
What happens during the disease - hereditary spastic paraplegia
Hereditary spastic paraplegia is an inherited neurological disorder caused by mutations in genes that are involved in the production of proteins that are essential for the normal function of the nervous system. these mutations lead to the progressive degeneration of the nerve cells in the spinal cord, resulting in spasticity and weakness in the lower extremities.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Medical history and physical examination
- Genetic testing
- Neurological examination
- Imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT) scans
- Electromyography (EMG)
- Blood tests
- Urine tests
- Lumbar puncture (spinal tap)
Treatment and Medical Assistance
Main goal of the treatment: To reduce the progression of the disease and improve the patient's quality of life.
- Regular physical therapy
- Occupational therapy
- Speech therapy
- Assistive technology
- Medication to reduce muscle spasms
- Surgery to correct muscle and joint deformities
- Injections of botulinum toxin to reduce muscle spasms
- Stem cell therapy
- Gene therapy
24 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Hereditary spastic paraplegia - Prevention
Hereditary spastic paraplegia is a genetic disorder that is not preventable. however, individuals can reduce their risk of developing complications associated with the disorder by maintaining a healthy lifestyle, such as eating a balanced diet, exercising regularly, and avoiding smoking. additionally, regular medical check-ups and screenings can help detect any signs of the disorder in its early stages and allow for early intervention.