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- Kimber, Eva, 1951-, et al.
(författare)
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Distal arthrogryposis : clinical and genetic findings
- 2012
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Ingår i: Acta Paediatrica. - : John Wiley & Sons. - 0803-5253 .- 1651-2227. ; 101:8, s. 877-887
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Tidskriftsartikel (refereegranskat)abstract
- AIM: Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis. Our aim is to describe clinical and molecular genetic findings in individuals with distal arthrogryposis and evaluate the genotype-phenotype correlation.METHOD: We investigated 39 patients from 21 families. Clinical history, including neonatal findings, joint involvement and motor function, was documented. Clinical examination was performed including evaluation of muscle strength. Molecular genetic investigations were carried out in 19 index cases. Muscle biopsies from 17 patients were analysed.RESULTS: A pathogenic mutation was found in six families with 19 affected family members with autosomal dominant inheritance and in one child with sporadic occurrence. In three families and in one child with sporadic form, the identified mutation was de novo. Muscle weakness was found in 17 patients. Ambulation was affected in four patients and hand function in 28. Fourteen patients reported pain related to muscle and joint affection.CONCLUSION: The clinical findings were highly variable between families and also within families. Mutations in the same gene were found in different syndromes suggesting varying clinical penetrance and expression, and different gene mutations were found in the same clinical syndrome demonstrating genetic heterogeneity.
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| 2. |
- Pegoraro, E, et al.
(författare)
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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.
- 2011
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Ingår i: Neurology. - 0028-3878. ; 76:3, s. 219-26
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Tidskriftsartikel (refereegranskat)abstract
- Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers.
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| 4. |
- Söderpalm, Ann-Charlott, 1961, et al.
(författare)
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Bone mass development in patients with Duchenne and Becker muscular dystrophies: a 4-year clinical follow-up
- 2012
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Ingår i: Acta Paediatrica. - : Wiley-Blackwell. - 0803-5253 .- 1651-2227. ; 101:4, s. 424-432
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To investigate the longitudinal development of bone mass in patients with Duchenne and Becker muscular dystrophies and to study the impact of muscle strength and motor function on bone mass in these patients. less thanbrgreater than less thanbrgreater thanMethods: Eighteen patients with Duchenne muscular dystrophy (2.3-19.7 years at baseline) and six patients with the milder Becker muscular dystrophy (10.8-18.9 years at baseline) were followed during a 4-year period with respect to areal bone mineral density (BMD), motor function and muscle strength. less thanbrgreater than less thanbrgreater thanResults: Greater bone mineral accretion was observed in the Becker patient group compared with the age-related Duchenne group above 10 years of age, and the older patients with Duchenne experienced decreased femoral neck BMD during the study period. In the study group, significant correlations were found between BMD in the lower extremities and muscle function parameters. less thanbrgreater than less thanbrgreater thanConclusions: The differences in BMD between patients with Duchenne and Becker as well as between different bone measurement sites demonstrated in the present study point out the importance of preserving muscle strength and motor function in patients with muscular dystrophy. Moreover; it highlights the value of performing region-specific analysis of the bone quality in these patients.
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| 7. |
- Söderpalm, Ann-Charlott, 1961, et al.
(författare)
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Whole body vibration therapy in patients with Duchenne muscular dystrophy - A prospective observational study
- 2013
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Ingår i: Journal of Musculoskeletal and Neuronal Interactions - JMNI. - : International Society of Musculoskeletal and Neuronal Interactions. - 1108-7161. ; 13:1, s. 13-18
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES:To study the tolerability of whole body vibration (WBV) exercise in patients with Duchenne muscular dystrophy (DMD) and its effects on muscle and bone.METHODS:WBV was performed two to three times a week for three months. Motor function, muscle strength, bone mass and biochemical markers of bone and mineral metabolism were analyzed before and after the WBV period at 0, 3, 6 and 12 months.RESULTS:Six ambulatory patients with DMD aged 5.7-12.5 years completed the study. No changes in creatine kinase activity were found, indicating that the WBV exercise did not further damage the skeletal muscle. No significant changes in bone mass, muscle strength or bone markers were found. However, there was a non-significant trend for the bone formation marker, bone-specific alkaline phosphate, to increase from a mean of 59 U/L to 73 U/L after three months of WBV. The bone formation marker levels returned to baseline three months after discontinuing WBV and were still at that level after nine months.CONCLUSIONS:WBV therapy appears to be safe and well tolerated among ambulatory DMD patients. The potential benefits of WBV on bone and muscle in DMD remain to be elucidated.
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