What is SMARD1?
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.
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