Stem Cells for Hope



Welcome to our website & discussion forums

Home     Stem Cells 101   Treatable Conditions   Patients' Experiences   Forums    Contact      FAQ
Monday, September 27, 2010 10:51:28 PM 
  Home Forums Help Search Login Register Contact Us  

Spinal muscular atrophy (SMA)

Synonyms

    * SMA

Disorder Subdivisions

    * prenatal onset SMA or arthrogryposis multiplex congenita-SMA
    * Werdnig-Hoffman disease or infantile muscular atrophy (SMA1)
    * SMA, mild child and adolescent form (SMA2)
    * Kugelberg-Welander disease or juvenile SMA (SMA3)
    * spinal muscular atrophy type 4 (SMA4)

General Discussion

Spinal muscular atrophy (SMA) that is caused by a deletion of the SMN gene on chromosome 5 is an inherited progressive neuromuscular disorder characterized by degeneration of groups of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells). Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or brain (central nervous system) to muscle or glandular tissue. Typical symptoms are a slowly progressive muscle weakness and muscle wasting (atrophy). Affected individuals have poor muscle tone, muscle weakness on both sides of the body without, or with minimal, involvement of the face muscles, twitching tongue and a lack of deep tendon reflexes. SMA is divided into subtypes based on age of onset of symptoms and maximum function achieved.

Spinal muscular atrophy is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. More patients with Werdnig Hoffman disease (SMA1) than other types of SMA have NAIP deletions. The relationship between specific mutations in the SMN gene and nearby genes and the severity of SMA is still being investigated so classification of SMA subdivisions is based on age of onset of symptoms and maximum function achieved, as opposed to the genetic profile. Other types of SMA exist with different prognoses.
 

Mission Statement

Our mission is to educate the general public on stem cell therapies now available to treat common neurological diseases and injuries.

Navigate Our Site
Stem Cells 101 Stem Cells 101
This page will explain stem cell therapies.  It answer many questions you may have regarding stem cell therapy for many common neurological disorders, such as Parkinson's disease, stroke and multiple sclerosis
Patients' Experiences Patients' Experiences
This page will share patient's experiences.  We expect this page to grow as more people participate.
Treatable Conditions Treatable Conditions
An informative that lists conditions that may be treated with stem cell therapies.
Frequently asked Questions FAQ
Frequently asked questions regarding stem cell therapies. This is a forum discussion, so if you are a registered member, you can ask questions here.
Forums Forums
Our discussion forums which act as a community for people who are interested in stem cell therapies, who have personal experiences to share, and who have questions to ask.

Contact Us

Contact Us
Please contact us with any questions or comments you may have regarding stem cell therapies or our website.

   
Join our forums!  Login (Forgot your password?)
Login