SMA Diagnosis
How is spinal muscular atrophy diagnosed?
The diagnosis of spinal muscular atrophy may be suspected if you or your child demonstrate specific symptoms or demonstrate signs on examination that are consistent with the pattern of weakness seen in this disorder. During the physical examination, your child's physician will obtain a complete medical history, and he/she may also ask if there is a family history of any medical problems.
Diagnostic tests which can help to confirm the diagnosis of spinal muscular atrophy include:
Blood tests:
Genetic testing can confirm a suspected diagnosis in most cases. Sometimes the initial genetic test is negative, and additional genetic testing or other testing may be needed to confirm a diagnosis.
Electromyogram (EMG):
A test that measures the electrical activity of a muscle or a group of muscles. An EMG can detect abnormal electrical muscle activity due to diseases and neuromuscular conditions.
Muscle biopsy:
A small sample of the muscle is removed and examined to determine and confirm a diagnosis or condition.
MRI or imaging studies:
Imaging studies of the brain or spine to help rule out other conditions
