Patient education about spinal muscle atrophy (SMA)
What is included in patient education about spinal muscle atrophy (SMA)?
@cooper Antenatal diagnosis in the first trimester and proper genetic counseling are possible with DNA analysis. This enables more accurate carrier detection. Not all parents of children with SMA are obligate carriers. The American College of Medical Genetics and Genomics (ACMG) has recommended that because SMA is found in all populations, carrier screening should be offered to couples of all races and ethnicities. The ACMG suggests that the testing be performed either before conception or early in pregnancy to allow carriers to make informed reproductive decisions. Approximately 3% of cases are sporadic.
A potential medicolegal pitfall is poor counseling of parents and patients regarding possible complications before surgical treatment. These patients lose function after spinal stabilization, and their ability to ambulate may be hindered. The possibility of recurrence or worsening of the hip dislocation must be emphasized; the risk of recurrent deformity is present even with foot and ankle procedures.