Familial mutation in ACTA1 gene – clinical variability

Aims: To describe the intrafamiliar variability of a mutation in the ACTA 1 gene.

Methods: Sequenzing of ACTA 1 gene

Results: In our family father and daughter possess the same mutation in exon 6 of ACTA1 gene. The father shows only mild symptoms of myopathy with a

myopathic face and a subtle proximal weakness. All his milestones were within normal range and he is still working as a mechanic without any problems. His daughter shows a contrasting clinical picture with a profound muscular weakness and deformities in her feet, hip and forearm being present from birth. She had a gradual

improvement of her weakness and a normal cognitive development. By the age of three she was able to walk independently. At the latest outpatient appointment (4years old) she showed the ability to to raise herself from the ground.

Conclusion: This family shows a remarkable variability in the severity of muscular weakness with a mutation in ACTA1 gene.

Minimal symptoms within the family must be recognized in order to adapt the genetic testing. The case highlights the unexpected good prognosis of congenital myopathies.

ACTA1 - actinopathy - congenital myopathy