| 1. |
- Johnson, Nicholas E, et al.
(author)
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Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.
- 2016
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In: Developmental medicine and child neurology. - : Wiley. - 1469-8749 .- 0012-1622. ; 58:7, s. 698-705
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Journal article (peer-reviewed)abstract
- The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile-onset myotonic dystrophy (CDM/ChDM/JDM) is not documented. This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early-onset myotonic dystrophy type-1 (DM1).
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| 2. |
- Martensson, A., et al.
(author)
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Oral hygiene aspects in a study of children and young adults with the congenital and childhood forms of myotonic dystrophy type 1
- 2016
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In: Clinical and Experimental Dental Research. - : Wiley. - 2057-4347. ; 2:3, s. 179-184
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Journal article (peer-reviewed)abstract
- The primary aim was to study the interaction between oral hygiene, oral care, saliva production, and oral motor function in individuals with myotonic dystrophy type 1 (DM1). A secondary aimwas to study how oral hygiene, oral care, and saliva flow rate are affected by gender, age, and subgroup of DM1 in this study population. The study comprised 52 individuals, seven to 29 years of age, divided into two subgroups of DM1, the congenital (N = 24) and childhood-onset forms (N = 28). A combined dental and oral motor examination was performed and the participants or caregivers answered a questionnaire with questions about general health and disabilities, medication, dental care, and oral health. Sixteen individuals with a plaque-, gingivitis-, or calculus-index score of 5-6 were considered to have poor oral hygiene. There were no significant differences between subgroups (age, gender, or form of DM1) in terms of the occurrence of calculus, gingivitis, plaque, or saliva flow rate. The mean value of the unstimulated whole saliva flow rate was 0.7(+/- 0.44) mL/min. An open mouth at rest and oral motor dysfunction were frequent findings. The majority of Swedish children and young adults with the congenital or childhood form of DM1 have fair or poor oral hygiene, with a high occurrence of plaque and gingivitis. As a group, individuals with DM1 and poor oral hygiene have a higher frequency of caries and they report less satisfaction with their oral care at home and the quality of dental care received compared with those with good oral hygiene.
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| 3. |
- Stridh, Marie Louise, et al.
(author)
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Postural control in the congenital and childhood forms of myotonic dystrophy type 1
- 2017
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In: European Journal of Physiotherapy. - : Informa UK Limited. - 2167-9169 .- 2167-9177. ; 19, s. 24-31
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Journal article (peer-reviewed)abstract
- © 2016 Informa UK Limited, trading as Taylor & Francis Group. Aims: To increase knowledge regarding postural control in congenital (CDM1) and childhood (ChDM1) forms of myotonic dystrophy type 1 and to analyze whether variations can be explained by age, joint motion, muscle strength and molecular findings. Methodology: In a cross-sectional study, postural control was measured with the Bruininks-Oseretsky test, sub-test balance, range of motion (ROM) in ankle dorsiflexion and muscle strength in ankle dorsiflexors. Simple linear regression analysis was used to investigate the association between postural control, molecular findings, muscle strength, age and ROM. Major findings: Forty-four individuals participated in the study. All individuals with CDM1 and 80% with ChDM1 had reduced postural control. Simple linear regression analysis shows a negative association between z-BOT2 and CTG repeat expansion (R2=.342, p =.000), a negative association with age (R2=.148, p =.006), a positive association with muscle strength in ankle dorsiflexors (R2=.205, p =.001) and a positive association with ROM in ankle dorsiflexion (R2=.078, p =.037). Principal conclusion: Reduced postural control is common in CDM1 and ChDM1. Size of CTG repeat expansion, muscle strength in ankle dorsiflexors, age and ROM in ankle dorsiflexion all contribute to variations in postural control. These findings provide a better understanding of the disease and contribute to improved health care for the patient group.
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