Nerve, muscle or bone disease? Look before you leap

Muthukrishnan J, Harikumar KVS, Sangeeta J, Singh MK, Modi K
Correspondence: Dr Jayaraman Muthukrishnan, jmuthukrishnan@hotmail.com

ABSTRACT
Severe muscle weakness in osteomalacia may mimic a primary neuromuscular disorder like spinal muscular atrophy. A 32-year-old woman, initially diagnosed as a case of spinal muscular atrophy based on clinical presentation, electromyography and muscle biopsy, was later found to have osteomalacic myopathy due to primary hyperparathyroidism complicated by vitamin D deficiency. Before diagnosing a progressive, inevitably fatal degenerative condition like spinal muscular atrophy, one must rule out all possible treatable conditions with a similar presentation.

Keywords: primary hyperparathyroidism, myopathy, osteomalacic myopathy, spinal muscular atrophy
Singapore Med J 2009; 50(8): e293-e294