Genetic counselling by qualified personnel is advised if there is any family history of the condition or before any genetic testing is done.
Genetic testing is available to confirm the diagnosis of SMA if there is suspicion of the disease based on physical observation. Carrier testing and genetic counselling are offered for adult family members of an affected patient.
If genetic testing yields a negative result but symptoms typical of SMA are observed, further tests such as muscle biopsy and electromyography may be necessary. Prenatal diagnosis and pre-implementation genetic diagnisus are available for couples who are at risk for having an offspring with SMA.