Nemaline Myopathy

What is nemaline myopathy?

Nemaline myopathy is a congenital (present from birth) muscle disorder. The term “nemaline myopathy” refers to rod-like structures found in muscle fibers that appear as small thread-like inclusions. “Nemaline” comes from the Greek word for “thread.”

Cause and symptoms

Nemaline myopathy can present at or even before birth. This early-onset form is severe. The baby may be floppy (have low muscle tone) and may experience breathing difficulties as well as problems with sucking and swallowing.

The condition can also manifest later in life. In such cases, the symptoms tend to develop more slowly than in the early-onset form.

Nemaline myopathy is a genetic disorder, meaning it is caused by changes in the genetic material. Several different genes can cause the various forms of nemaline myopathy, and the condition can be inherited in different ways.

Diagnosis and treatment

To diagnose nemaline myopathy, a small sample of muscle tissue (a biopsy) is examined. Genetic (DNA) testing is also possible.

At this time, there are no medications available to cure or specifically treat nemaline myopathy. However, support can be provided by a rehabilitation physician and various allied health professionals (such as physical therapists, occupational therapists, and speech therapists).