Nemaline myopathy is a rare genetic disorder causing muscle weakness, difficulty breathing, eating, and talking. Treatment options are available, but the condition cannot be cured. Different forms exist, and patients can present differently. The condition involves small rod-like structures in skeletal muscles, and some patients may require ventilator support and respiratory therapy. Difficulty swallowing and communicating are also common.
Nemaline myopathy is a rare genetic disorder involving skeletal muscles. People with this condition have muscle weakness of varying severity which can lead to difficulty walking, breathing, eating and talking. Like many other genetic disorders, nemaline myopathy cannot be cured, but treatment options are available to help people manage this disease. At least six different forms are recognized and it is important to be aware that even the same form can present differently in different patients.
A number of different genes are involved in nemaline myopathy. The hallmark of this condition is a dispersion of small rod-like structures within the skeletal muscles. This condition is also known as rod myopathy in reference to these structures. The condition was first identified in the 1950s and named in the 1960s. Initially, the researchers thought the rods were artifacts on biopsy specimens and rejected the original description of this disease.
Nemaline myopathy is usually non-progressive and the patient is not expected to weaken throughout life. Some people are born with muscle weakness and have a characteristic floppy appearance as a child. In the adult-onset form, people experience healthy childhoods and develop muscle weakness as adults. Depending on the severity of the muscle weakness, nemaline myopathy can be a relatively mild condition or it can create muscle weakness leading to the need for mobility aids and other assistive devices. Some patients develop spinal curvature because their spines aren’t getting enough support.
One of the biggest concerns with nemaline myopathy is that some patients have difficulty breathing due to their weakened muscles. Some patients may require ventilator support and respiratory therapy to breathe comfortably, and in young children, difficulty breathing is an especially important problem. Babies born with nemaline myopathy are monitored closely for signs of respiratory distress so that interventions can be provided as quickly as possible.
Another problem experienced by some patients is difficulty swallowing due to weakness of the facial and throat muscles. Some patients cannot take food by mouth and rely on a tube to feed. For people with muscle weakness in the face and throat, oral communication can be difficult. You may need to use sign language or a communication board to be understood. A speech pathologist can work with a patient to provide an assessment and treatment plan if the patient experiences these common difficulties.
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