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Spinal muscular atrophy

Related Terms

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Background

  • Spinal muscular atrophy (SMA) is a group of inherited diseases that cause muscles to lose function. The progressive muscle deterioration causes weakness and eventually leads to death.
  • SMA affects the motor neurons, especially those in the spinal cord and brain stem. Motor neurons help convey electrical and chemical signals to and from the voluntary muscles in the body that are used for physical activities such as crawling, walking, head and neck control, and swallowing.
  • There are four types of SMA, which are distinguished by the age of disease onset and specific motor functions that the patient is capable of performing, indicating the severity of the disease.
  • SMA disorders are caused by a genetic mutation (abnormal gene) or deletion (missing gene). The gene affected is known as the survival motor neuron gene (SMN1), which is normally responsible for creating a protein necessary for motor neurons to function correctly. When SMN1 is mutated or missing, this protein is not produced, causing motor neurons to degenerate and die. When motor neurons die, they no longer signal the muscle cells, and then the muscle cells cannot function properly. When muscle cells are not being used, they become very small and begin to break down (atrophy). This is what causes the muscle weakness associated with SMA.
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Risk Factors

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Causes

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Types of the Disease

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Signs and Symptoms

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Diagnosis

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Complications

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Treatment

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Integrative Therapies

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Prevention

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Author Information

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References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

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The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.