Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular disease leading to muscle weakness and atrophy, exemplified by a case of a 36-year-old man with SMA type 3 presenting with abdominal pain and vomiting.
The patient was diagnosed with severe ketoacidosis, which improved after receiving dextrose and sodium bicarbonate infusions.
The study suggests that severe ketoacidosis in SMA patients may be influenced by factors like low muscle mass, fatty acid metabolism issues, hormonal imbalances, and glucose metabolism defects, highlighting the need for increased awareness of ketoacidosis in neuromuscular disease management.
In patients with complex psychosocial history presenting with resistant hypertension, observed therapy should be implemented early on to avoid unnecessary investigations and delayed diagnosis.