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Neuromuscular Diseases in Children

Neuromuscular disease is a collective term used for a group of diseases that impair muscle function. This can happen directly due to muscle disease or indirectly, through disease of the lower motor neuron system--peripheral nerves that supply the muscle or neuromuscular junction. Although it can be acquired, most of the more than 200 neuromuscular diseases known are genetic in origin. These diseases cause a gradual decrease in muscle strength leading to disabilities ranging from impaired movement to difficulty breathing.

  1. Classification

    • Neuromuscular disease may either be acquired or hereditary. Examples of acquired neuromuscular disease include poliomyelitis, Guillain-Barre syndrome and polymyositis. Inherited neuromuscular diseases include spinal muscular atrophy, Duchenne's muscular dystrophy, hereditary motor sensory neuropathy and Becker muscular dystrophy.

      Alternatively, neuromuscular disease can be classified depending on where the pathology is located. There are muscular dystrophies (e.g., Duchenne muscular Dystrophy, Becker muscular dystrophy and congenital muscular dystrophy), inflammatory myopathies (e.g., polymyositis), neuromuscular junction diseases (e.g., myasthenia gravis, Lambert-Eaton syndrome), peripheral nerve disease (e.g., Charcot-Marie-Tooth disease, Friedreich's ataxia), mitochondrial myopathies (e.g., Kearns-Sayre syndrome) and motor neuron diseases (e.g., infantile progressive spinal muscular atrophy, juvenile amyotrophic lateral sclerosis).

    Duchenne Muscular Dystrophy (DMD)

    • DMD is a very common muscular dystrophy; it is also one of the most devastating. In this disease, muscle cells fail to produce the protein dystrophin. It usually manifests between the age of 2 and 6. Affected children slowly lose the ability to walk and are usually wheelchair bound by the age of 12. Survival beyond age 30 is rare.

    Becker Muscular Dystrophy

    • Unlike DMD, in this disease the muscle cells produce insufficient amounts of the protein dystrophin. This causes instability in the muscle cell membrane structure. The mean age of disease onset is twelve years and these patients live up to forty years.

    Friedreich's Ataxia

    • This neuromuscular disease in children occurs when there is a lack of the protein frataxin in the tissues. The age of onset is usually 7 to 13 years. It is characterized by shaky movements, muscle weakness, reduced muscle coordination, slurred speech and loss of sensation. Most patients develop heart diseases.

    Infantile Progressive Spinal Muscular Atrophy

    • This disease manifests early, usually between birth and six months. It is characterized by muscle weakness, difficulty in sucking and swallowing and respiratory distress. Children with this neuromuscular disorder usually die young, generally by the age of 2 or 3.

    Charcot-Marie-Tooth Disease

    • This is one of the more common neuromuscular diseases in children. It is characterized by weakness and atrophy of the muscles below the knee and that of the arms below the elbow. The age of onset is usually the first or the second decade of life. Children with this disease may require hand and arm braces. In severe cases, a wheelchair may be needed for mobility.

    Conclusion

    • Considerable progress has been made in increasing the lifespan and decreasing the suffering of children with these diseases. However, as of late 2009, there is no cure for neuromuscular diseases in children.

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