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Myotonic dystrophy (a rare genetic muscle problem) associated with low vitamin D – Nov 2016

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis - Italy 2016

Neuromuscular Disorders, online 16 Nov 2016, http://dx.doi.org/10.1016/j.nmd.2016.11.004
Elena Campione, MD, PhDa, Annalisa Botta, PhDb, Monia Di Prete, MDa, Emanuele Rastelli, MDc, Manuela Gibellini, MDc, d, Antonio Petrucci, MDe, Sergio Bernardini, MDd, Giuseppe Novelli, PhDb, Luca Bianchi, MDa, Augusto Orlandi, MDf, Roberto Massa, MDc, Chiara Terracciano, MD, PhDc, d, ,

• DM1 and DM2 display a high frequency and a similar pattern of cutaneous alterations
• Nevi abnormalities and premature aging are the most common skin features in DM
• In DM1 patients, the number of nevi correlated with CTG expansion size
• Dysplastic nevi and xerosis inversely correlated with vitamin D levels in DM1

Skin changes have been described in myotonic dystrophy type 1 (DM1). However, whether and in which way skin is a target of specific disease alterations in DM1 and DM2 has not been yet clarified. This study aims to explore cutaneous features of DM1 and DM2 patients. Skin examination was performed in 60 DM1, 15 DM2, and 103 control, unselected patients by means of dermoscopy. It revealed quantitative and qualitative abnormalities of nevi and typical signs of premature aging in both DM1 and DM2 patients, with a significantly higher frequency of dysplastic nevi, alopecia, xerosis and seborrheic dermatitis.

Twenty-eight nevi were excised in DM patients and none showed histological features of melanoma, although 12 of them were diagnosed as dysplastic and the remaining 16 presented histological irregularity in melanin distribution. In DM1 patients, the number of nevi correlated with CTG expansion size, whereas the presence of dysplastic nevi and xerosis inversely correlated with vitamin D levels. DM1 and DM2 patients display a high frequency of skin abnormalities, the most common of which correlate with genotype severity and serum vitamin D levels. Skin examination is highly informative in these patients and reveals features suggestive of premature aging and impaired vitamin D homeostasis.

Author's email address:
Campione Elena: campioneelena at hotmail.com
Botta Annalisa: botta at med.uniroma2.it
Di Prete Monia: diprete.monia at gmail.com
Rastelli Emanuele: emanuelerastelli1 at libero.it
Gibellini Manuela: manuela.gibellini at gmail.com
Petrucci Antonio: AnPetrucci at scamilloforlanini.rm.it
Bernardini Sergio: bernardini at med.uniroma2.it
Novelli Giuseppe: novelli at med.uniroma2.it
Bianchi Luca: luca.bianchi at uniroma2.it
Orlandi Augusto: orlandi at uniroma2.it
Massa Roberto: massa at uniroma2.it

Vitamin D deficiency in myotonic dystrophy type 1 - Italy 2013

J Neurol. 2013 Sep;260(9):2330-4. doi: 10.1007/s00415-013-6984-1. Epub 2013 Jun 11.
Terracciano C1, Rastelli E, Morello M, Celi M, Bucci E, Antonini G, Porzio O, Tarantino U, Zenobi R, Massa R.
1Neuromuscular Center, Division of Neurology, Department of Systems Medicine, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy. chiara.terracciano at uniroma2.it
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder affecting, among others, the endocrine system, with derangement of steroid hormones functions. Vitamin D is a steroid recognized for its role in calcium homeostasis. In addition, vitamin D influences muscle metabolism by genomic and non-genomic actions, including stimulation of the insulin-like-growth-factor 1 (IGF1), a major regulator of muscle trophism. To verify the presence of vitamin D deficit in DM1 and its possible consequences, serum 25-hydroxyvitamin D (25(OH)D), calcium, parathormone (PTH), and IGF1 levels were measured in 32 DM1 patients and in 32 age-matched controls. Bone mineral density (BMD) and proximal muscle strength were also measured by DXA and a handheld dynamometer, respectively.

In DM1 patients, 25(OH)D levels were reduced compared to controls, and a significant decrease of IGF1 was also found. 25(OH)D levels inversely correlated with CTG expansion size, while IGF1 levels and muscle strength directly correlated with levels of 25(OH)D lower than 20 and 10 ng/ml, respectively.

A significantly higher percentage of DM1 patients presented hyperparathyroidism as compared to controls.

Calcium levels and BMD were comparable between the two groups.
Oral administration of cholecalciferol in 11 DM1 patients with severe vitamin D deficiency induced a normal increase of circulating 25(OH)D, ruling out defects in intestinal absorption or hepatic hydroxylation.
DM1 patients show a reduction of circulating 25(OH)D, which correlates with genotype and may influence IGF1 levels and proximal muscle strength.
Oral supplementation with vitamin D should be considered in DM1 and might mitigate muscle weakness.

PMID: 23754696 DOI: 10.1007/s00415-013-6984-1
 Download the PDF from VitaminDWiki (from ResearchGate)

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies - Italy 2013

J Neurol Sci. 2013 Jun 25. pii: S0022-510X(13)00268-2. doi: 10.1016/j.jns.2013.06.008.
Passeri E, Bugiardini E, Sansone VA, Valaperta R, Costa E, Ambrosi B, Meola G, Corbetta S.
Endocrinology and Diabetology Unit, Dept. of Biomedical Sciences for Health, University of Milan, Milan, Italy. Electronic address: elenapasseri83 at libero.it.

Parathyroid function in Myotonic Dystrophy (DM) patients has been poorly investigated. Parathyroid and muscle parameters were assessed in 31 male DM1 (44±2years), 13 male DM2 (56±2years) 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<10ng/ml) was diagnosed in 40% and
  • hypovitaminosis D (25OHD<30ng/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.

Copyright © 2013 Elsevier B.V. All rights reserved.

Based on very little information I, Henry Lahore, will speculate that:

  • 1) Vitamin D will probably not prevent myotonic dystrophy
  • 2) Vitamin D might possibly treat myotonic dystrophy
  • 3) People with myotonic dystrophy should increase their vitamin D levels
       to reduce risk of getting other diseases associated with low vitamin D - such as bone loss
    See Diseases that may be related via low vitamin D

Attached files

ID Name Comment Uploaded Size Downloads
7352 DM1 vs control.jpg admin 18 Nov, 2016 26.54 Kb 3143
7351 VitDinDM1.pdf admin 18 Nov, 2016 645.72 Kb 766