Three brothers presented in early childhood with nonspecific symptoms progressive weakness since birth and fatigue over the course of their lives; 2 of them also had ptosis. An initial diagnosis of congenital muscular dystrophy was made based on muscle biopsy findings, but clinical review in adulthood and genetic testing led to a diagnosis of DOK7-related congenital myasthenic syndrome. A low-cost treatment with oral albuterol provided subjective and objective improvements in function. Reevaluation of remote diagnoses based on muscle biopsy findings in the setting of readily available genetic panels can lead to a correct diagnosis, and in some cases, treatment that can greatly improve quality of life for patients.
Gill et al. (Mon,) studied this question.