- Author
-
L. ten Dam
- Title
- Limb girdle muscular dystrophies
- Supervisors
-
M. de Visser
- Co-supervisors
-
A.J. van der Kooi
- Award date
- 23 October 2020
- Number of pages
- 189
- ISBN
- 9789464161168
- Document type
- PhD thesis
- Faculty
- Faculty of Medicine (AMC-UvA)
- Abstract
-
Limb girdle muscular dystrophies (LGMD) encompass inherited muscle disorders that are named after the distribution of muscle weakness. They manifest with symmetrical and progressive weakness of the limb girdle muscle groups – muscles of the hip/thigh and shoulder/upper arm – in due course evolving to more generalized muscle weakness and may also affect the heart and respiratory muscles. The objective of this thesis was to investigate the role of deep phenotyping in the diagnosis and classification of LGMD. The introduction focuses on the classification of LGMD and the different ancillary investigations available for the diagnosis of LGMD. In the first part of the thesis we investigated if muscle imaging could be helpful in identifying LGMD subtypes and could differentiate LGMD from other muscle disease. In the second part we report on clinico-genetic analyses of LGMD patients in the Netherlands. The thesis concludes with a general discussion in which we propose a guideline for the evaluation of patients presenting with limb girdle muscle weakness and propose directions for future research.
- Other links
- Chapter 2
Chapter 4
Chapter 5
Chapter 7 - Note
- Chapter 2: This is the peer reviewed version of the following article: ten Dam, L., van der Kooi, A.J., Verhamme, C., Wattjes,
M.P. and de Visser, M. (2016), Muscle imaging in inherited and acquired muscle diseases. Eur J Neurol, 23: 688-703, which
has been published in final form at https://doi.org/10.1111/ene.12984. This article may be used for non-commercial purposes
in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
Chapter 7: This is the peer reviewed version of the following article: Ten Dam L, Frankhuizen WS, Linssen WHJP, et al. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clin Genet. 2019;96(2):126-133, which has been published in final form at https://doi.org/10.1111/cge.13544. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. - Persistent Identifier
- https://hdl.handle.net/11245.1/05cb0608-6837-4c99-80f2-2acef86be255
- Downloads
-
Thesis (complete)
Front matter
Chapter 1: Introduction and aim of the thesis
Chapter 2: Muscle imaging in inherited and acquired muscle diseases – A narrative review
Chapter 3: Reliability and accuracy of muscle imaging in limb girdle muscular dystrophies
Chapter 4: Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies
Chapter 5: ANO5 mutations in the Dutch limb girdle muscular dystrophy population
Chapter 6: Elucidation of the genetic cause in Dutch limb girdle muscular dystrophy families: A 27-years’ journey
Chapter 7: Autosomal recessive limb girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Chapter 8: General discussion and future research
Summary; Samenvatting (Dutch); Contributing authors; Portfolio; List of publications; Dankwoord (Dutch)
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