Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?
| Autor: | Erika Trevi, Roberto Fancellu, Antonio Costantini, Maria Immacolata Pala |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Vitamin medicine.medical_specialty Disease medicine.disease_cause Physical strength Gastroenterology Myotonic dystrophy lcsh:RC346-429 thiamine 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Developmental Neuroscience Internal medicine Steinert's disease medicine activity of daily living Endocrine system nerve regeneration myotonic dystrophy type 1 lcsh:Neurology. Diseases of the nervous system business.industry medicine.disease Steinert′s disease muscular strength neural regeneration Surgery 030104 developmental biology medicine.anatomical_structure chemistry Peripheral nervous system Thiamine business human activities 030217 neurology & neurosurgery Oxidative stress Research Article |
| Zdroj: | Neural Regeneration Research Neural Regeneration Research, Vol 11, Iss 9, Pp 1487-1491 (2016) |
| ISSN: | 1673-5374 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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