PMID- 23809192 OWN - NLM STAT- MEDLINE DCOM- 20140207 LR - 20220310 IS - 1878-5883 (Electronic) IS - 0022-510X (Linking) VI - 331 IP - 1-2 DP - 2013 Aug 15 TI - Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies. PG - 132-5 LID - S0022-510X(13)00268-2 [pii] LID - 10.1016/j.jns.2013.06.008 [doi] AB - 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 in DM patients and it is associated with 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. CI - Copyright (c) 2013 Elsevier B.V. All rights reserved. FAU - Passeri, E AU - Passeri E AD - Endocrinology and Diabetology Unit, Dept. of Biomedical Sciences for Health, University of Milan, Milan, Italy. elenapasseri83@libero.it FAU - Bugiardini, E AU - Bugiardini E FAU - Sansone, V A AU - Sansone VA FAU - Valaperta, R AU - Valaperta R FAU - Costa, E AU - Costa E FAU - Ambrosi, B AU - Ambrosi B FAU - Meola, G AU - Meola G FAU - Corbetta, S AU - Corbetta S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20130625 PL - Netherlands TA - J Neurol Sci JT - Journal of the neurological sciences JID - 0375403 RN - 0 (Parathyroid Hormone) RN - 1406-16-2 (Vitamin D) SB - IM MH - Adult MH - Body Mass Index MH - Humans MH - Hyperparathyroidism, Secondary/*etiology MH - Male MH - Middle Aged MH - Muscle, Skeletal/*pathology/physiopathology MH - *Myotonic Dystrophy/blood/complications/pathology MH - Parathyroid Glands/pathology MH - Parathyroid Hormone/blood MH - Severity of Illness Index MH - Statistics as Topic MH - Statistics, Nonparametric MH - Vitamin D/blood MH - Vitamin D Deficiency/*etiology OTO - NOTNLM OT - 25OHD OT - CTG correlations OT - Calcium OT - Myotonic Dystrophy type 1 OT - Myotonic Dystrophy type 2 OT - PTH OT - Phosphate EDAT- 2013/07/03 06:00 MHDA- 2014/02/08 06:00 CRDT- 2013/07/02 06:00 PHST- 2013/02/21 00:00 [received] PHST- 2013/05/15 00:00 [revised] PHST- 2013/06/07 00:00 [accepted] PHST- 2013/07/02 06:00 [entrez] PHST- 2013/07/03 06:00 [pubmed] PHST- 2014/02/08 06:00 [medline] AID - S0022-510X(13)00268-2 [pii] AID - 10.1016/j.jns.2013.06.008 [doi] PST - ppublish SO - J Neurol Sci. 2013 Aug 15;331(1-2):132-5. doi: 10.1016/j.jns.2013.06.008. Epub 2013 Jun 25.