Nerve, muscle or bone disease? Look before you leap.
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.
Muthukrishnan
J
J
Department of Endocrinology, Medwin Hospital, Chirag Ali Lane, Nampally, Hyderabad 500001, India. jmuthukrishnan@hotmail.com
Harikumar
K V S
KV
Sangeeta
J
J
Singh
M K
MK
Modi
K
K
D000328:Adult; D002119:Calcium Carbonate / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004576:Electromyography / Q000379:methods; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis; D018908:Muscle Weakness / Q000175:diagnosis*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis*; D010018:Osteomalacia / Q000175:diagnosis*; D014807:Vitamin D / Q000627:therapeutic use; D014808:Vitamin D Deficiency / Q000150:complications
D014807:Vitamin D; D002119:Calcium Carbonate