Centers of Excellence

Neuromuscular Disorders: A Clinical Overview

Neuromuscular disorders present in one in every 1,000 live births. They include myopathy, muscular dystrophy, neurojunction disorders, and inflammatory muscle disorders

Neuromuscular disorders occur when nerve cells that control muscle function become unhealthy or die, causing a communication breakdown between the nervous and muscular systems. Eventually, the breakdown in communication causes the muscles to progressively weaken and deteriorate. Common symptoms include muscle twitching, cramps, aches, pains, and problems with joint and movement functionality.

Neuromuscular disorders often present with progressive weakness affecting the muscles of the trunk, arms, and legs. This weakness impacts mobility, resulting in the need for adaptive equipment such as wheelchairs, Hoyer lifts, toileting and shower chairs and, in some cases, special beds. Weakness and decreased mobility often lead to problems involving the bones of the lower extremities and spine.

The most severe diagnoses impact the upper extremities, which makes it difficult to perform activities of daily living, such as eating and dressing independently. Measures to prevent these problems can be started early, but orthopaedic surgery is often required.

The impact of neuromuscular disorders reaches beyond the muscular system, often having a significant effect on the muscles of the heart and respiratory system. Muscles of the upper airways and respiratory system can be weakened because of neuromuscular diseases in the same way other muscles of the body are weakened. Respiratory failure in neuromuscular patients occurs from three main mechanisms: aspiration secondary to oropharyngeal; fatigue of respiratory muscles; or weak cough. Respiratory failure is especially prevalent in patients with myasthenia gravis and Guillain-Barre syndrome. Ongoing assessments with cardiology and pulmonology are important parts of a comprehensive care plan. 

In addition to respiratory problems, many patients experience endocrine and gastroenterology issues . Consultation with an endocrinologist is needed to address possible thyroid and growth-hormone irregularities. Gastroenterology consultation is also necessary to address feeding, swallowing and intestinal problems that often accompany this patient population.

Neuropsychological health is also impacted. The physiological processes, which cause the physical symptoms of neuromuscular diseases, can also affect behavior, learning and information processing. Pharmaceutical intervention may be required to treat behavioral issues. Neuropsychological testing can identify learning difficulties which can be addressed with educational adaptations.

Diagnosis of a chronic, progressively debilitating disease has an overwhelming impact on the overall mental health of children. Support services, including counseling from psychologists and Child Life specialists, can help ease the mental and emotional burden. Parents, siblings and other family members can also struggle with diagnosis. Learning a child has a progressive, life-altering disease can be devastating. In addition coping with the diagnosis and the multiple medical interventions, families must make adjustments to their day-to-day routines, such as work and school schedules, coordinating sibling care and extracurricular activities.

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