Search for dissertations about: "Welander distal myopathy"

Found 3 swedish dissertations containing the words Welander distal myopathy.

  1. 1. Welander distal myopathy : clinical and genetic studies

    Author : Gabrielle Åhlberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Welander distal myopathy; neurogenic component; rimmed vacuoles; linkage; chromosome 2p13; candidate genes; common founder; homozygous form; variable clinical expression;

    Abstract : Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness. Most cases originate from the middle parts of Sweden. READ MORE

  2. 2. Welander distal myopathy : gene mapping and analysis of candidate genes

    Author : Désirée von Tell; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Welander Distal Myopathy; 2p13; linkage; candidate genes; founder mutation; mutation screening.;

    Abstract : Distal myopathies constitute of a very heterogeneous group of muscular disorders. Distal myopathies have previously been classified according to features such as; clinical symptoms, age of onset and histopathological changes. READ MORE

  3. 3. The effects of hand training in patients with Welander distal myopathy and myotonic dystrophy type 1

    Author : Anna S Aldehag; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The overall aim was to study and gain knowledge about the effects of hand training on both functional capacity such as hand function and Activities of Daily Living (ADL) in patients with Welander distal myopathy (WDM) and Myotonic dystrophy type 1 (DM1). The thesis comprises three interventional studies regarding the effects of hand training in patients with WDM (Study I) and DM1 (Studies II & IV), and one reliability study (Study III) including test-retest and inter-rater reliability of four hand function testing instruments used in Study IV. READ MORE