Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Nerve, muscle or bone disease? Look before you leap. 1971 Sep 62