A diagnosis of spinal muscular atrophy is usually made by a physician. It is important to determine whether the muscle weakness is due to SMA, other early childhood conditions or another neuromuscular disease.
Physicians use diagnostic tests to aid in making an accurate diagnosis.
A muscle biopsy is a test where a small piece of muscle tissue is surgically removed and examined under a microscope. This DNA based diagnosis is also replacing the muscle biopsy for the diagnosis of an infant or child with possible SMA in many centres. There are several Canadian laboratories that perform this test. SMA, genetic studies are often not considered until after the death of the affected child, when the opportunity to obtain a DNA sample has been lost. It is important that physicians and others responsible for the child's care communicate to all involved the necessity of a blood sample from the affected child in order to carry out prenatal diagnosis in later pregnancies.