Since we’ve been talking about the fill the boot campaign the annual MDA telethon, why not use our “what is” series to take a closer look at the group of diseases we commonly refer to as muscular dystrophy.
While most EMS caregivers have a general idea of what to expect in a muscular dystrophy presentation, few of us are as knowledgeable as we should be about what muscular dystrophy is and what it does to the body. Let’s take a closer look.
While we tead to refer to muscular dystrophy as a single defined disease process, it is actually a group of disease that share some common characteristics. Add to that the fact that all of these diseases are degenerative in nature and you can imagine how remarkably different these patients can be.
The nine primary diseases in the muscular dystrophy group are all inherited. Genetic abnormalities like defects in muscle proteins lead to abnormally rapid cellular death and progressive muscle weakness. It is this genetic anomaly that also makes the disease far more likely to appear in males than females.
Some of these diseases confine themselves to specific muscle groups but most of them are multi-system, affecting not only skeletal muscle but the muscles of the GI tract, the respiratory system and the heart. Long term treatment of MD patients focuses on maintaining muscle tone through activity and prevention of contractures and immobility. They may also require constant advanced airway support and mobility assistance.
Most of the medical emergencies we will be called to manage in the MD patient will be associates with the patients stasis and muscular degeneration. The patient who is confined to a bed or wheelchair my struggle with pressure sores, infection and sepsis. The patient chronic lack of tidal volume and chest wall degeneration may lead to respiratory distress and the need for ventilatory support. Cardiovascular degeneration is also a concern and the patient should be monitored for arrhythmia.
A full 75% of patients who die from the disorder will ultimately die from hypercapnea secondary to chronic hypoventilation. The take home message is ventilate early and maintain the airway aggressively. Pay attention to the skin for signs of hypoxia or infection.
Even though the patient may have difficulty talking or communicating, know that mental retardation and cognitive deficits are only rarely associated with MD and most patients will be cognitively intact as a baseline. Talk to your MD patients and interact with them throughout their care.
Until a cure is found, muscular dystrophy will always present a unique challenge for EMS caregivers. Perhaps the next generation of EMS workers won’t need to concern themselves with such things. For now there is no cure for any of the degenerative diseases known as muscular dystrophy. Some of the disease sufferers will live full lives and struggle with the disease over their natural life span. Others will ultimately succumb to the disease. Frequently, we will be there. Hopefully this review will help you on that day.