The Rare Gene Behind a Hidden Form of SMA: IGHMBP2 Explained
One especially rare form is Spinal Muscular Atrophy with Respiratory Distress Type 1, also known as SMARD1, which is caused by disease-causing variants in a different gene called IGHMBP2. Unlike the more familiar 5q SMA associated with SMN1, SMARD1 is genetically distinct and often becomes noticeable in infancy because of severe breathing difficulties and progressive muscle weakness. IGHMBP2-related SMARD1 particularly damages alpha motor neurons in the brainstem and spinal cord, ultimately affecting the nerve cells responsible for controlling muscle movement.
The IGHMBP2 gene, located on chromosome 11, provides instructions for making a protein involved in important cellular processes related to DNA, RNA, and protein production. When both copies of this gene contain disease-causing variants, the resulting loss of normal IGHMBP2 function can damage motor neurons over time. SMARD1 is inherited in an autosomal recessive pattern, meaning an affected individual typically inherits one altered copy from each parent, while the parents themselves usually do not develop symptoms. One of the most recognizable differences between SMARD1 and classic 5q SMA is its strong respiratory involvement: infants can develop diaphragm paralysis, respiratory failure, weak crying, feeding difficulties, recurrent pneumonia, and weakness that often becomes especially noticeable in the hands and feet.
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