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. Thia...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 me- tabolism; 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 de- scribed 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＇ activi- ties 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 MRG score before the treatment was 3-4 and 1-3, re- spectively）. 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.展开更多
Parkinson’s disease（PD）is a progressive neurodegenerative disorder clinically characterized by motor symptoms（bradykinesia,tremor,rigidity,postural instability）and non-motor symptoms（hyposmia,sleep disorders,aut...Parkinson’s disease（PD）is a progressive neurodegenerative disorder clinically characterized by motor symptoms（bradykinesia,tremor,rigidity,postural instability）and non-motor symptoms（hyposmia,sleep disorders,autonomic and sphincteric dysfunctions,fatigue,pain,depression,and cognitive disorders）（Sprenger and Poewe,2013）.展开更多
文摘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 me- tabolism; 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 de- scribed 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＇ activi- ties 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 MRG score before the treatment was 3-4 and 1-3, re- spectively）. 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.
文摘Parkinson’s disease（PD）is a progressive neurodegenerative disorder clinically characterized by motor symptoms（bradykinesia,tremor,rigidity,postural instability）and non-motor symptoms（hyposmia,sleep disorders,autonomic and sphincteric dysfunctions,fatigue,pain,depression,and cognitive disorders）（Sprenger and Poewe,2013）.
