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Doctor

I have sma . I still can walk and teach . But i...

تم تقييم هذه الإجابة:
I have sma . I still can walk and teach . But i feel weaker than before i need advice . Im 32 years old . I have two copies of smn2 and 0 copies of smn1 the main jean . So i have the disease . Help if u can please
Doctor's Assistant: Have you seen a doctor about this yet? What medications are you taking?
They see no help can be provided
Doctor's Assistant: Anything else in your medical history you think the doctor should know?
No but what can make life and pain easier?

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إجابة الخبير: الدكتور علي الطويل

الدكتور علي الطويل

الدكتور علي الطويل

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الأسئلة المجابة 37599 | نسبة الرضا 98%

Treatment of spinal muscular atrophy SMA:
At present, there is no cure for SMA. Those affected by the disorder can work with their health care providers to manage SMA symptoms and prevent complications, which can contribute to quality of life. There are no current medications for treatment of spinal muscular atrophy. Several medications to improve muscle and nerve function are currently in clinical trials. However, physical and occupational therapy and rehabilitation to keep joints flexible and to slow the progression of muscle wasting while improving flexibility and circulation,specific therapies for speech, chewing and swallowing may be appropriate. Furthermore, proper feeding is essential to avoid aspiration (inhaling food or fluid into the lungs) and ensure good nutrition. Please note that ventilation assistance should be considered for patients with breathing difficulties as they may require non-invasive ventilation to prevent apnea while sleeping, while others may need assisted ventilation during the daytime as well.

SMA Diagnosis

The symptoms of spinal muscle atrophy are similar to those of a number of other diseases affecting the muscles. To determine whether a patient’s muscle atrophy is due to SMA, the doctor may use the following tests:
- Genetic testing: a blood test that enables technologists to look for mutations of SMN gene on the fifth chromosome.
- Electromyography (EMG): a test that shows how muscles are receiving signals from the nerves.
- Muscle biopsy: a small piece of muscle removed for examination under the microscope.

Types of SMA

Spinal muscle atrophy is classified as type 1, 2, 3 or 4 depending on age of onset. Most cases are progressive — that is, symptoms worsen instead of improving – but in general the later the symptoms develop, the better the outcome for motor function.
1. SMA type 1: This is the most severe kind of SMA and strikes infants within the first six months of life. Some children with SMA type 1 will die before their second birthday, but aggressive therapy is improving the outlook for these children.
2. SMA type 2 (intermediate SMA): When a child develops spinal muscular atrophy between six and 18 months, the condition is classified as type 2. The child may be able to sit up, but respiratory challenges can shorten their lives as the disease progresses.
3. SMA type 3 (juvenile SMA, Kugelberg Welander syndrome): Type 3 SMA emerges in children 18 months old or older and can become evident as late as in the teenage years. Muscle weakness is present, but most patients can walk and stand for limited periods, particularly early in the course of the illness.
4. SMA type 4 (adult SMA): In some people, SMA develops in adulthood. Type 4 SMA is rarely severe enough to have impact on the patient’s lifespan .

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الدكتور علي الطويل

الدكتور علي الطويل

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الأسئلة المجابة 37599 | نسبة الرضا 97.9%

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