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It is also extremely important that families become educated in order to actively participate in their child’s medical care. We are therefore teaming up with voluntary patient organizations and can provide information on publications, websites and support groups. Attending the clinic on a regular basis is an effective way to remain abreast of new medical developments as you meet with our physicians.
The additional diagnostic examinations may include some blood tests. The neurologist may also refer you to genetic counseling and genetic testing from a blood sample. Sometimes, an EMG study is suggested to further evaluate your child’s condition. The test has two parts: The first part, called nerve conduction study, measures how the nerves conduct impulses. Small, harmless electric stimulation is applied and the effects on the nerves are measured. The second part, called electromyography, uses a very small needle which is inserted superficially into the muscles, to evaluate muscle activity. This test involves minimal discomfort, but is safe and does not cause lasting discomfort or problems.
You will be asked to return to the Clinic after all of your testing is complete to meet again with the neurologist for a diagnostic discussion. If the diagnosis is confirmed, you will then meet with the multidisciplinary team members who will provide evaluation and specific recommendations for how to approach the changes your child is experiencing.
It is very important that children and their families maintain regular contact with an SMA. For affected children and their family quality of life is linked to the care they receive.
Effective symptom management will help maintain and enhance quality of life. This includes regular assessment of physical functioning in order to provide education and guidance concerning the maintenance of strength, balance, and safety. Additionally, nutritional intake should be assessed regularly and adjustments made according to changes in physical status. Respiratory function should also be monitored on a regular basis. This will allow the pulmonologist on our team to recommend special respiratory treatments in a timely fashion. Similarly, we recommend that any possible spine curvature be monitored during the clinic visits and perhaps evaluated with an X-ray if needed. This will help the orthopedist on our team to make recommendations on proactive management of spine problems. Periodic sessions with the Rehabilitation Medicine Specialist will make sure that you have adequate adaptive and augmentative equipment to maintain mobility, and safety.