Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies

E. Passeri, E. Bugiardini, V. A. Sansone, R. Valaperta, E. Costa, B. Ambrosi, G. Meola, S. Corbetta

Research output: Contribution to journalArticlepeer-review


Parathyroid function in Myotonic Dystrophy (DM) patients has been poorly investigated. Parathyroid and muscle parameters were assessed in 31 male DM1 (44 ± 2 years), 13 male DM2 (56 ± 2 years) and 32 healthy controls. Hyperparathyroidism was diagnosed in 18% of patients without differences between DM types. In all DM patients, hyperparathyroidism was associated with normocalcemia but one with hypercalcemia. DM patients presented significantly higher PTH and lower vitamin D (25OHD) compared with controls, also considering seasonality. Severe vitamin D deficiency (25OHD <10 ng/ml) was diagnosed in 40% and hypovitaminosis D (25OHD <30 ng/ml) occurred in 88% of DM patients. About one-third of DM1 presented hypophosphatemia associated with elevated PTH levels. Serum 25OHD levels negatively correlated with PTH and with body fat mass. Considering DM1 patients, serum PTH levels positively correlated with CTG triplet repeats. Furthermore, PTH levels negatively correlated with total modified Medical Research Council (MRC) and positively with Muscular Impairment Rating Scale (MIRS). By contrast, in DM2 patients muscle assessment did not show any correlation with parathyroid function. In conclusion, we arrived at the following: 1) severe vitamin D deficiency is common inDMpatients and it is associatedwith secondary hyperparathyroidism; 2) primary hyperparathyroidism, though rare, may occur; 3) increased adiposity in DM may be a risk factor for hypovitaminosis D; and 4) high serum PTH levels may indicate a muscle impairment, at least in DM1.

Original languageEnglish
Pages (from-to)132-135
Number of pages4
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - Sep 15 2013


  • 25OHD
  • Calcium
  • CTG correlations
  • Myotonic Dystrophy type 1
  • Myotonic Dystrophy type 2
  • Phosphate
  • PTH

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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