PMID- 27857755
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 1673-5374 (Print)
IS  - 1876-7958 (Electronic)
IS  - 1673-5374 (Linking)
VI  - 11
IP  - 9
DP  - 2016 Sep
TI  - Can long-term thiamine treatment improve the clinical outcomes of myotonic 
      dystrophy type 1?
PG  - 1487-1491
AB  - Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal 
      dominant disorder with multisystemic clinical features affecting the skeletal and 
      cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a 
      cofactor of fundamental enzymes involved in the energetic cell metabolism; recent 
      studies described its role in oxidative stress, protein processing, peroxisomal 
      function, and gene expression. Thiamine deficiency is critical mainly in the 
      central and peripheral nervous system, as well as in the muscular cells. Our aim 
      was to investigate the potential therapeutical effects of long-term treatment 
      with thiamine in myotonic dystrophy type 1 in an observational open-label pilot 
      study. We described two patients with myotonic dystrophy type 1 treated with 
      intramuscular thiamine 100 mg twice a week for 12 or 11 months. We evaluated the 
      patients using the grading of muscle strength according to Medical Research 
      Council (MRC), the Muscular Impairment Rating Scale (MIRS), and the Modified 
      Barthel index. High-dose thiamine treatment was well tolerated and effective in 
      improving the motor symptomatology, particularly the muscle strength evaluated 
      with the MRC scale, and the patients' activities of daily living using the 
      Modified Barthel Index. At the end of treatment, the MRC score was 5 in the 
      proximal muscles and 2-4 in the distal muscles (the MRC score before the 
      treatment was 3-4 and 1-3, respectively). The MIRS grade improved by 25% compared 
      to baseline for both patients. In patient #1, the Modified Barthel Index improved 
      by 44%, and in patient #2 by 29%. These findings suggest that clinical outcomes 
      are improved by long-term thiamine treatment.
FAU - Costantini, Antonio
AU  - Costantini A
AUID- ORCID: 0000-0002-2298-5002
AD  - Department of Neurological Rehabilitation, "Villa Immacolata" Clinic, Viterbo, 
      Italy; School of Physiotherapy, Catholic University of Rome, Rome, Italy.
FAU - Trevi, Erika
AU  - Trevi E
AD  - Department of Neurological Rehabilitation, "Villa Immacolata" Clinic, Viterbo, 
      Italy.
FAU - Pala, Maria Immacolata
AU  - Pala MI
AD  - Department of Neurological Rehabilitation, "Villa Immacolata" Clinic, Viterbo, 
      Italy.
FAU - Fancellu, Roberto
AU  - Fancellu R
AD  - Neurology Unit, IRCCS San Martino University Hospital IST, Genoa, Italy.
LA  - eng
PT  - Journal Article
PL  - India
TA  - Neural Regen Res
JT  - Neural regeneration research
JID - 101316351
PMC - PMC5090854
OTO - NOTNLM
OT  - Steinert's disease
OT  - activity of daily living
OT  - muscular strength
OT  - myotonic dystrophy type 1
OT  - nerve regeneration
OT  - neural regeneration
OT  - thiamine
COIS- Conflicts of Interest: None declared.
EDAT- 2016/11/20 06:00
MHDA- 2016/11/20 06:01
PMCR- 2016/09/01
CRDT- 2016/11/19 06:00
PHST- 2016/11/19 06:00 [entrez]
PHST- 2016/11/20 06:00 [pubmed]
PHST- 2016/11/20 06:01 [medline]
PHST- 2016/09/01 00:00 [pmc-release]
AID - NRR-11-1487 [pii]
AID - 10.4103/1673-5374.191225 [doi]
PST - ppublish
SO  - Neural Regen Res. 2016 Sep;11(9):1487-1491. doi: 10.4103/1673-5374.191225.