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  • Updated 02.24.2021
  • Released 09.04.2001
  • Expires For CME 02.24.2024

Management of chronic neuromuscular disease in children

Introduction

Overview

In this article, the author discusses caring for children with various types of chronic neuromuscular disease. The updated article includes discussion of new aspects of genetic therapies.

Key points

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

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

• 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 for the treatment of some conditions, such as Duchenne muscular dystrophy (34).

Management depends on the specific diagnosis and the specific 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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