Initial Management

1. If child's presentation is acute or if child is experiencing an acute exacerbation of a subacute or chronic problem, it is important to anticipate respiratory compromise and be able to proceed with airway stabilization in a controlled fashion.

2. Rapid identification of child with sepsis, CNS infection, malnutrition, intestinal obstruction, cyanotic heart disease, toxicity, trauma, cerebrovascular accident, mass lesion, hypothyroidism, Guillain-Barre syndrome, or infantile botulism is important because these are all potentially treatable conditions if detected early. Infantile botulism is often treated with supportive care, although some centers use botulism antitoxin; aminoglycosides exacerbate hypotonia by competing at the neuromuscular junction.

3. Most commonly, hypotonia is related to a known CNS insult. If child has central hypotonia and no identifiable preceding insult, the hypotonia is often benign. Children with central hypotonia are also treated with supportive therapy, including physical therapy. A swallowing evaluation may be required, and feeding support such as nasogastric tube feedings may be required if children have significant sucking or swallowing difficulties.

B. Congenital Myopathies. Treatment of most patients with congenital myopathies is supportive. Diagnosis of spinal muscular atrophy is important to help guide future decisions regarding appropriate level of intervention, including intubation. In general, the younger the child at diagnosis, the worse will be the prognosis.

VI. Problem Case Diagnosis. The 8-month-old girl was diagnosed with spinal muscular atrophy, based on a DNA test demonstrating presence of SMNgene. Of interest, an infection with respiratory syncytial virus caused bronchiolitis, which led to the acute presentation.

VII. Teaching Pearl: Question. If a patient presents with hypotonia yet with vibrant facial expressions, what does this suggest?

VIII. Teaching Pearl: Answer. Children with neuromuscular disease often have preserved facial expressions and appear vibrant despite significant hypotonia and weakness.

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