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- Darin, Niklas, 1964, et al.
(författare)
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Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
- 2007
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Ingår i: Eur J Paediatr Neurol. - : Elsevier BV. ; 11:6, s. 353-7
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Tidskriftsartikel (refereegranskat)abstract
- Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP), is one of the most common forms of LGMD in childhood. We describe two patients with LGMD2I and a Duchenne-like phenotype. In addition to the common L276I mutation, both patients had a new mutation in FKRP, L169P and P89L, respectively. Clinical onset was triggered by viral upper respiratory tract infections. In addition to the common dystrophic pattern with a weak immune histochemical staining for alpha-dystroglycan, muscle biopsy showed inflammatory changes. This was especially striking in one of the patients with up-regulation of MHC class 1 antigen, suggestive of myositis. Both patients showed a good clinical response to treatment with prednisolone, which was initiated at daily dosage of 0.35mg/kg/day. Our results provide evidence for an inflammatory involvement in the pathological expression of LGMD2I and open up the possibility that this disorder could be treatable with corticosteroids.
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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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| 3. |
- Peny-Dahlstrand, Marie, 1953, et al.
(författare)
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Performance of activities in daily living in children born with spina bifida
- 2008
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Ingår i: Folke Bernadotte Stiftelsen konferens om delaktighet "En hel del" 18-19 september 2008.
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Konferensbidrag (refereegranskat)abstract
- PERFORMANCE OF ACTIVITIES IN DAILY LIVING IN CHILDREN BORN WITH SPINA BIFIDA Background Dependency in daily living in children with spina bifida has most commonly been described as a problem due to motor dysfunctions and little is known about the impact on the performance of daily living activities due to executive dysfunction. The aim of this study was to evaluate the quality of the performance of daily activities in children with spina bifida. This study is the first in larger research plan aimed to study the correlation between skills of activity performance and perceived participation in school and everyday life among children born with spina bifida. Materials and Methods A cross-sectional study of children from the western region of Sweden with spina bifida (n=50) born between1993-1999, was carried out at the Regional Rehabilitation Centre for children and adolescents in Gothenburg to evaluate performance of activities in daily living using the Assessment of Motor and Process Skills (AMPS). The study group consisted of both children with and without hydrocephalus. The AMPS is an observational method designed to allow a simultaneous evaluation of the motor and process skills necessary for a competent performance. The results from the study group were analysed and compared to age-matched normative values and to match-pairs of typically developed Scandinavian children, in the latter case considering minimal clinical important differences (> 0,5 logits). Results The results showed that 60% of the children with spina bifida had lower ADL-motor skills and 48% had lower ADL-process skills than the age norms (± 2SD). Results from the match-pair comparisons shows that the study group had skill values that were lower and of clinical meaningful importance on motor skills in 80% of the cases and on process skills in 66% of the cases. There were significant differences in both motor skills and process skills in the study group between the children with and those without hydrocephalus with the former group demonstrating lower measures. Conclusions Children with spina bifida have, to a large extent, decreased ability to perform activities of daily living relating to impairment of both motor and process abilities. These findings suggests that to reach autonomy in daily life, children born with spina bifida need support from parents and professionals to find, to learn and to use strategies not only to know “how to do things” but also “how to get things done”
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| 6. |
- Söderpalm, Ann-Charlott, 1961, et al.
(författare)
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Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy
- 2007
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 17:11-12, s. 919-928
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Tidskriftsartikel (refereegranskat)abstract
- This cross-sectional study examined bone mineral density, bone turnover, body composition and calciotropic hormones in 24 boys with Duchenne muscular dystrophy (DMD) (2.3-19.7 years), most of whom were being treated with prednisolone, and 24 age-matched healthy boys. Our study demonstrated lower bone mineral density in the DMD group for total body, spine, hip, heel and forearm measurements. These differences between DMD patients and controls increased with increasing age. Biochemical markers of both bone formation and resorption revealed reduced bone turnover in DMD patients. The fracture rate was not higher in DMD patients. The DMD group had low vitamin D levels but high leptin levels in comparison with the control group. Muscle strength correlated with bone mineral density assessed at the hip and heel in the DMD group. Interventions that increase bone formation should be considered, as DMD patients have reduced bone turnover in addition to their low bone mineral density. © 2007 Elsevier B.V. All rights reserved.
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