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  • Updated 10.11.2023
  • Released 09.04.2001
  • Expires For CME 10.11.2026

Management of chronic neuromuscular disease in children



In this article, the author discusses caring for children with various types of chronic neuromuscular disease.

Key points

• Chronic neuromuscular disease in children impacts the patient, family, and health resources.

• Even though there are general guidelines for care, each patient may require their own individualized care plan.

• Frequent follow-up and anticipation of complications is a key.

• Treatment options are becoming more available and promising.

Historical note and terminology

Chronic neuromuscular disease in children encompasses a wide variety of heterogeneous disorders. These disorders may include abnormalities in the neuromuscular junction (familial infantile myasthenia, congenital myasthenic syndromes, autoimmune myasthenia gravis), primary muscle disease (congenital myopathies, muscular dystrophies, metabolic and inflammatory myopathies), mitochondrial cytopathy (myopathy), motor neuron disease (spinal muscular atrophy), and peripheral nerve disease (inherited polyneuropathies, inflammatory neuropathies, Friedreich ataxia).

The clinical characteristics of many of these diseases were identified hundreds of years ago. The genetic signatures have been identified for most, but not all, of the chronic neuromuscular diseases affecting children and provide hope for gene therapy to treat some conditions, such as Duchenne muscular dystrophy (37).

Management depends on the specific diagnosis and complications anticipated with different types of neuromuscular diseases. Management should focus on preventing and alleviating complications while providing ongoing care and rehabilitation for the patient.

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