Tuesday, May 21, 2024

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disease where the muscles weaken and waste away because of degeneration of motor neurones (nerve cells in the spinal cord). The genes of spinal muscular atrophy are passed from parent to their child but this only affects a child if both parents carry a defective gene. If a person has one normal and one affected gene they will not show the symptoms of SMA but will be carriers.

There is no known cure for SMA and no way of preventing it as it is very much an inherited condition. However test of drugs have been carried out in America and are expected to continue.  As with many similar conditions treatment and the right ongoing care can help sufferers live a much fuller life that maybe otherwise expected.

Find details, information, symptoms and causes of spinal muscular atrophy along with diagnosis, treatment and research information listed in this busy area of ABLEize.

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This dedicated UK registered charity explains about spinal muscular atrophy types 1, 2, 3 and 4 with research details and how to get advice. Includes details of their fundraising activities and how to get involved.

Supporting people affected by Spinal Muscular Atrophy SMA as well as offering their own story and how to offer help. Includes an introductory video and contact details.

Offers a frank and direct explanation of spinal muscular atrophy and the varied types as well as the symptoms, causes and diagnoses of the condition.

An official NHS site offering treatment details, symptoms, causes and prevention’s. Includes video clips and useful links. Includes details of the four types of spinal muscular atrophy.

The European body for Spinal Muscular Atrophy highlighting their projects and offering documents, downloads and information in all areas of SMA. Also offers details of clinical trials.

Spinal muscular atrophy (SMA) information and resources from the University of Sheffield with research and ongoing tests to replacement gene therapy for SMA in an attempt to restore the missing SMN protein.