SMA and other inherited diseases can be genetically tested and therefore discovered early on. Contact Dr. Anthony Leone to learn more.
Spinal muscular atrophy represents a group of diseases characterized by progressive symmetric muscular weakness caused by the loss of anterior horn cells. Spinal muscular atrophy is inherited as an autosomal recessive trait. Spinal muscular atrophy can be diagnosed using DNA analysis or by muscle biopsy. Muscle enzyme levels are usually normal. Prenatal diagnosis is possible.¹
¹R. Vaccaro MD, Alexander. Orthopaedic Knowledge Update. Rosemont: American Academy of Orthopaedic Surgeons, 2005.
Genetic testing in woman as well as their partner can be a good step in family planning to screen for genetically inherited diseases that either person may be carrying. While the mom or her partner may not have a family history of genetic disease, he or she can still be a carrier of a condition that can be passed on to the child. This testing covers an array of genetically inherited diseases throughout the body, including spinal muscular atrophy in the spinal cord and other spine disorders.
Spinal Muscular Atrophy has three primary indicators for the recommendation of genetic testing.
- appearance of SMN1 mutation in the family structure of the patient
- genetic diagnosis of two known carriers of SMA in reference to prenatal or preimplantation situations
- diagnosis of patients with weakness in the muscles and hypotonia – a substantial indication of spinal muscular atrophy
At the present time, there is no direct cure for SMA. However, treatment for the disease involves management and prevention of the secondary effects of muscle loss and muscle weakness. Patients with Spinal Muscular Atrophy can be cared for, especially in respiratory, rehabilitation and nutritional care. In lab experiments, various drugs have been found to help patients. The drugs currently being investigated include: riluzole, hydroxyurea, valproic acid, and butyrates.
Fortunately, with the advent of genetic testing – patients can be diagnosed for SMA based on common symptoms. He or she can then receive proper treatment based upon the findings.
Genetic testing has paved the way for the diagnosis of various diseases. Through genetic testing, a physician can determine the prognosis of a patient and tailor specific treatment plans for full effectiveness. In order to diagnose SMA (characterized by muscle weakness and degeneration) symptoms must be present. Mutations in VAPB and SMN1 genes result in SMA.
During the genetic test, a blood sample (or tissue sample) is administered from the patient. In the case of the SMN1 gene mutation – the test will determine if there is at least one copy of the mutated gene. Certain mutations in the SMN1 gene can cause different types of SMA. This test helps determine what type of SMA the patient has and in doing so will aid both patient and physician in determining the proper discourse of treatment.
Spinal Muscular Atrophy or SMA is a slow progression of strength as a result of disease within motor neurons located in the brainstem and spinal cord. It is best to have a physician diagnose SMA via genetic testing as this is the least invasive of the options available. In this test, a blood sample is taken from the patient and is then tested for chromosome 5-related genetic spinal muscular atrophy and others. Through genetic testing the physician can then determine the proper course of action based on the prognosis.