Abstract
INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.
METHODS: A national cohort of 91 patients aged ≥5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically.
RESULTS: Four patients with ACTA1 mutations were identified, yielding a prevalence of 4.4%. Patients were 10-23 years of age, and all but 1 were ambulatory. Vital capacity ranged from 47% to 70% predicted, and 1 patient needed nocturnal bi-level positive airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted.
CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older patients with congenital myopathy is not negligible and that phenotypes can be quite mild.
| Original language | English |
|---|---|
| Journal | Muscle & Nerve |
| Volume | 53 |
| Issue number | 3 |
| Pages (from-to) | 388-93 |
| Number of pages | 6 |
| ISSN | 0148-639X |
| DOIs | |
| Publication status | Published - 1 Mar 2016 |