Respiratory Stress in Spinal Muscular Atrophy: Essential Facts
Spinal Muscular Atrophy with Respiratory Distress, or SMARD, is a rare genetic condition that primarily affects infants and children. This disorder causes muscle weakness and breathing problems, making it difficult for affected individuals to lead a normal life.
Early symptoms of SMARD often manifest in infancy and may include feeding problems, a weak cry, noisy and difficult breathing, shortness of breath, and progressive respiratory distress. As the condition progresses, some people may experience loss of deep tendon reflexes, kyphosis, scoliosis, kyphoscoliosis, hypersalivation, dysphagia, gastroesophageal reflux, problems empting the stomach or bladder, and reduced facial expressions.
Diagnosing SMARD can take many months due to its rarity and the variety of symptoms it presents. The process typically involves genetic testing, blood tests, electromyogram (EMG), and muscle biopsy. It is essential to note that SMARD and spinal muscular atrophy (SMA) are different conditions, with SMA caused by a genetic mutation in the SMN1 gene. On the other hand, SMARD type 1 (SMARD1) is caused by mutations in the IGHMBP2 gene, while the cause of SMARD type 2 (SMARD2) remains unspecified.
Treatment options for SMARD do not include a cure, but they can help manage the symptoms and improve the quality of life for affected individuals. Treatment may include respiratory support, such as catheterization for urinary retention and mechanical ventilation for diaphragm paralysis. Antibiotics may be used to treat airway infections, and suctioning may be necessary to clear the upper airways. Nutrition support, physical therapy, occupational therapy, and counseling are also common treatments.
Unfortunately, the life expectancy for someone with SMARD is difficult to determine due to the severity of respiratory problems. However, with proper care and treatment, some individuals with SMARD have lived into their late teens and early twenties. The oldest known person with SMARD was 21 years old.
If you suspect that you or a loved one may have SMARD, it is essential to speak with a doctor for more information about the diagnosis and treatment options. With early diagnosis and appropriate care, it is possible to manage the symptoms of SMARD and improve the quality of life for affected individuals.
