Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?

Congenital myopathy is a heterogeneous group of muscle disorders characterized by muscle weakness and hypotonia. This condition is associated with a range of skeletal, respiratory, and ophthalmologic complications and requires a multidisciplinary therapeutic approach aimed at maximizing the function and independence of patients. One promising direction for therapeutic intervention is physical exercise rehabilitation, given its demonstrated ability to promote muscle and bone health of patients with a variety of neuromuscular conditions. However, there are few data to assist health care professionals identify the optimal physical activity levels and exercise type, including the intensity, frequency, and duration. This lack of empirical evidence is particularly problematic given the fact that inappropriate exercise modes can potentially cause muscle damage in patients with congenital myopathy. In this article, we discuss the rationale behind the incorporation of two types of physical exercises, strength and aerobic training, into the clinical care of patients with congenital myopathy. Given the paucity of literature on the management of congenital myopathy, we review the results of published research on the treatment of both congenital myopathy and other neuromuscular diseases that could provide helpful insights into the physical rehabilitation of patients with congenital myopathy. We also discuss the potential benefits of vibration therapy, which has been studied in patients with other neuromuscular disorders over the last two decades. We conclude by proposing directions for future research on physical rehabilitation of patients with congenital myopathy.

Diffusely increased insertional activity: "EMG disease" or asymptomatic myotonia congenita? A report of 2 cases.

The term "EMG disease" is used by some to describe the unexpected finding of diffusely increased insertional activity on needle electromyography in an otherwise asymptomatic person. The cause is unknown, but it has been hypothesized that these patients actually have a subclinical myotonic disorder. We describe 2 patients with diffusely increased insertional activity on electromyography who had mutations of the CLCN1 gene associated with myotonia congenita. Neither patient had symptoms or reproducible signs of this disorder. We propose that asymptomatic patients with CLCN1 mutations may at least partially account for the EMG disease phenotype.