The congenital myopathies are rare disorders that result in muscle weakness of variable severity. Some patients are affected from birth, while others may develop symptoms in childhood or adulthood. Although patients with some types may not survive past the first few years of life, others may walk independently through adulthood and have families of their own.

The diagnosis of congenital myopathies is usually made from a muscle biopsy. Sometimes, specific muscle changes such as rods or tubules are found in these biopsies. However, on occasions, the muscle biopsy of a patient with a congenital myopathy does not reveal specific changes that would help to establish a diagnosis. Our laboratory is interested in studying DNA and muscle biopsy samples of these patients since it would provide insight into the genetic cause of their muscular condition.

Identification of these genes could have direct clinical benefit to patients and their families by allowing for specific diagnostic testing such as carrier detection and prenatal diagnosis for those who wish. Furthermore, understanding the genetic cause (s) of congenital myopathies will increase our understanding of muscle biology and provide insights into future development of specific treatments and therapies.

Genetics
Most congenital myopathies are thought to have a genetic cause. This means that the condition is caused by alterations in certain genes that are involved in muscle function and/or development. Despite this, most often, congenital myopathies happen in families where there is no previous history of neuromuscular disorders. In these cases, we say that the genetic condition occurred sporadically. Although genetic changes can arise sporadically, once the change appears in a person's genes, the alteration can be passed on from an affected parent to children in a specific pattern of inheritance. Inheritance patterns may vary among different families. It is the purpose of our study to understand these alterations, how they can arise and how they are inherited.

Research
One of the goals of the research done at the Beggs laboratory is to determine which genes and proteins are involved in the cause of congenital myopathies with non-specific muscle changes. We hope that what we learn will be useful for improving diagnosis and treatment of these conditions. If you are the parent of a child with a congenital myopathy, if you yourself are affected, or if you are the healthcare provider of a patient with this condition, you may be able to help us to better understand neuromuscular conditions, and to develop better tests, therapies and treatments.