Neuromuscular diseases

Neuromuscular diseases are a group of disorders affecting either central motor neurons, the neuronal pathways, the muscles themselves or a combination of those. These diseases are marked by progressive disability due to muscle weakness. Motor neuron disease, particularly amyotrophic lateral sclerosis (ALS), is a progressive and incurable neurologic condition. The treatment is primarily palliative in nature with a focus on maintaining communication and optimizing function. Given the high symptom burden associated with the disease, pharmacologic and nonpharmacologic management is provided to improve overall quality of life. As the disease progresses, functional decline is anticipated and cognitive dysfunction may also occur. Therefore, establishing goals of care early in the disease process is critical to ensure that the goals are aligned with the available treatment options. Challenging discussions regarding end-of-life care and advance care planning are recommended throughout the course of disease and certain triggers may prompt these conversations at specific time points. At the end of life, some patients may decide to transition to comfort care through hospice services, which offer support to the patient and the caregiver. The provision of palliative care for motor neuron disease requires a clinician to understand the disease trajectory, anticipate symptoms, ease suffering, and clarify the patient's goals. More research is necessary to determine the optimal platform for the delivery of palliative care in this patient population.