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Spinal Muscular Atrophy

Reference work entry

Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. It is a clinically and genetically heterogeneous group of neuromuscular diseases. It is the second most common lethal autosomal recessive disorder after cystic fibrosis in Caucasian populations with an overall incidence of 1 in 10,000 live births and a carrier frequency of approximately 1 in 50 (Biros and Forrest 1999).

Synonyms and Related Disorders

Adult SMA; Arthrogryposis multiplex congenita-SMA; Congenital axonal neuropathy; Dubowitz disease; Kugelberg-Welander disease; Werdnig-Hoffman disease

Genetics/Basic Defects

  1. 1.
    Inheritance
    1. a.

      Autosomal recessive in most cases (SMA1, SMA2, SMA3)

       
    2. b.

      Autosomal dominant in both juvenile and adult form, representing 2% of infantile and about 30% of adult SMA

       
     
  2. 2.

    Caused by mutation or deletion of Survival Motor Neuron-1 (SMN1)

     
  3. 3.

    M...

Keywords

Spinal Muscular Atrophy Survive Motor Neuron Lower Motor Neuron Anterior Horn Cell Spinal Muscular Atrophy Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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