SMARD1 or spinal muscular atrophy with respiratory distress syndrome is a rare genetic motor neuron disorder affecting less than 200,000 infants in the U.S. It is an extremely serious condition that (without a ventilator) only has a life expectancy of 13 months.
SMARD1 is also known as neuropathy severe infantile axonal with respiratory failure, distal SMA and diaphragmatic SMA. The disease causes progressive weakness in the muscles in the arms and chest which in turn can lead to severe respiratory problems. Children with SMARD1 will be unable to sit unaided and will need a ventilator to help them breathe. Source: rightdiagnosis.com
Some of the other common symptoms of SMARD1 include feeding problems, arm paralysis, contractures in the ankles and knees, excessive sweating, and bowel and bladder problems.
The disease differs from SMA type 1 as the symptoms occur in reverse. In SMA the muscles from the limbs inwards become progressively weaker, whereas in SMARD1 the muscles from the chest and diaphragm outwards become progressively weaker. Find out more about SMARD1 here.
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
We are sorry that this post was not useful for you!
Let us improve this post!
Tell us how we can improve this post?