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Your search keyword '"Mitochondrial myopathy"' showing total 3 results
Start Over Descriptor "Mitochondrial myopathy" Region finland
3 results on '"Mitochondrial myopathy"'

1. University of Helsinki Reports Findings in Mitochondrial Myopathy (Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency).

Subjects
NEUROMUSCULAR diseases, MUSCULOSKELETAL system diseases, MITOCHONDRIAL DNA, STEM cell research, MITOCHONDRIAL pathology
Abstract

A recent report from the University of Helsinki in Finland discusses a case of mitochondrial myopathy in a four-year-old child who later died at the age of eight. The child experienced progressive muscle weakness, nocturnal hypoventilation, and dilated cardiomyopathy. The researchers discovered a novel mutation in mitochondrial tRNA (MTTN) and observed severe combined respiratory chain deficiency. The child also had systemic NAD deficiency, but niacin supplementation did not effectively halt the progression of the disease. The study highlights the challenges in understanding and treating mitochondrial myopathy in children. [Extracted from the article]

Published
2024

2. mutations and motor neuron disease: the distribution in Finnish patients.

Author

Penttilä, Sini, Jokela, Manu, Saukkonen, Anna Maija, Toivanen, Jari, Palmio, Johanna, Lähdesmäki, Janne, Sandell, Satu, Shcherbii, Mariia, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, and Udd, Bjarne

Subjects
MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, DISEASE progression, SENSORIMOTOR cortex, ELECTROMYOGRAPHY, PATIENTS, DIAGNOSIS, BIOPSY, CHARCOT-Marie-Tooth disease, LONGITUDINAL method, MUSCLE diseases, GENETIC mutation, PROTEINS, SPINAL muscular atrophy, WHITE people, PHENOTYPES, SKELETAL muscle, MITOCHONDRIAL myopathy, FAMILIAL spastic paraplegia
Published
2017
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3. Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Author

Immonen, Tuuli, Turanlahti, Maila, Paganus, Aila, Keskinen, Päivi, Tyni, Tiina, and Lapatto, Risto

Subjects
*DEHYDROGENASES, *METABOLIC disorders in children, *EARLY diagnosis, *DIET therapy, *SURVIVAL analysis (Biometry), *INFANT disease treatment, *GENETIC disorder diagnosis, *DIAGNOSIS of neurological disorders, *DIAGNOSIS of muscle diseases, *CLINICAL trials, *COMPARATIVE studies, *GENETIC disorders, *LIPID metabolism disorders, *LONGITUDINAL method, *RESEARCH methodology, *MEDICAL cooperation, *MUSCLE diseases, *CARDIOMYOPATHIES, *NEUROLOGICAL disorders, *PROTEINS, *RESEARCH, *RHABDOMYOLYSIS, *SURVIVAL, *EVALUATION research, *TREATMENT effectiveness, *RETROSPECTIVE studies, *MITOCHONDRIAL myopathy, *DIAGNOSIS
Abstract

Aim: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment.Methods: From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996.Results: The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0-30 days and the survival rate at the end of the study was 62.5% compared with 10-year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy.Conclusion: Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long-term complications, such as retinopathy and neuropathy. [ABSTRACT FROM AUTHOR]

Published
2016
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