Background: Disorders of movement in the pediatric population may be attributed to a variety of diagnoses across the neuromuscular axis. Previous diagnoses relied on clinical findings, muscle and nerve biopsies. However, advancements in next-generation genetic sequencing allows for more accurate identification of neuromuscular diseases.
Case Presentation: This case presents the journey of a 19 year old who female presented with muscle weakness in infancy. Clinical symptoms and muscle biopsy findings at age one were indicative of nemaline myopathy (NM). The patient’s condition was managed as an unspecified myopathy for nearly two decades. With the advent of advanced genetic testing, the diagnosis was reevaluated. New genetic results unexpectedly revealed that this patient had a subtype of Ehlers-Danlos syndrome (EDS), a group of disorders affecting collagen synthesis and structure.
Interventions/Outcomes: Although neither EDS nor NM have curative intervention options, the updated diagnosis necessitates a revised management approach. This includes monitoring for EDS-related complications, such as cardiovascular health, connective tissue integrity, and chronic pain management. Furthermore, as the patient is now in adulthood, the revision in diagnosis significantly influences the discussions regarding genetic counseling.
Conclusion: This case stresses the importance of reevaluating reevaluation of neuromuscular disorders in light of new genetic findings. Re-evaluation may be particularly valuable for cases where clinical, genetic, and histopathological findings do not align. This case may also indicate a new subtype of EDS with muscle findings that may have not been explored previously.