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(G12.8) Other spinal muscular atrophies and related syndromes
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701 258 in individuals diagnosis other spinal muscular atrophies and related syndromes confirmed
265 837 deaths with diagnosis other spinal muscular atrophies and related syndromes
38% mortality rate associated with the disease other spinal muscular atrophies and related syndromes
Diagnosis other spinal muscular atrophies and related syndromes is diagnosed Men are 6.83% more likely than Women
374 561
Men receive the diagnosis other spinal muscular atrophies and related syndromes
129 845 (34.7 %)Died from this diagnosis.
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326 697
Women receive the diagnosis other spinal muscular atrophies and related syndromes
135 992 (41.6 %)Died from this diagnosis.
Risk Group for the Disease other spinal muscular atrophies and related syndromes - Men and Women aged 65-69
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 95+in in women, the disease manifests at any age
In Women diagnosis is most often set at age 0-95+
Disease Features other spinal muscular atrophies and related syndromes
Absence or low individual and public risk
Other spinal muscular atrophies and related syndromes - what does this mean
Other spinal muscular atrophies and related syndromes are a group of genetic disorders caused by mutations in various genes that affect the development and maintenance of motor neurons in the spinal cord. these mutations lead to the progressive degeneration of the motor neurons, resulting in muscle weakness, atrophy, and eventual paralysis.
What happens during the disease - other spinal muscular atrophies and related syndromes
Other spinal muscular atrophies and related syndromes are a group of genetic disorders caused by mutations in genes that are involved in the production of proteins necessary for the survival and maintenance of motor neurons. these mutations lead to the progressive loss of motor neurons in the spinal cord and brain stem, resulting in muscle weakness and atrophy. in some cases, this can lead to respiratory failure and death.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Neurological examination
- Electromyography (EMG)
- Genetic testing
- Brain imaging
- Blood tests
- Urine tests
- Lumbar puncture (spinal tap)
- Muscle biopsy
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of other spinal muscular atrophies and related syndromes and improve quality of life.
- Physiotherapy to maintain muscle strength and function
- Occupational therapy to maintain independence
- Speech and language therapy to maintain communication skills
- Nutritional support to maintain a healthy weight
- Medications to reduce muscle spasms and pain
- Surgery to correct joint deformities
- Assistive devices to help with mobility
- Breathing support to maintain respiratory function
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Other spinal muscular atrophies and related syndromes - Prevention
Prevention of other spinal muscular atrophies and related syndromes is largely unknown. genetic counseling is recommended for individuals and families with a history of the condition, as well as prenatal testing for pregnancies at risk of carrying the disease. in addition, regular medical check-ups and physical therapy can help to manage the symptoms and slow progression of the disease.