Sökning: "spinal muscular atrophy"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden spinal muscular atrophy.

1. 1. Muscle strength and motor function in neuromuscular disorders. A clinical study of children and adolescents with spinal muscular atrophy, myotonic dystrophy, Duchenne muscular dystrophy and amyoplasia

   Författare :Anna-Karin Kroksmark; Göteborgs universitet; []
   Nyckelord :muscle involvement; muscle function; motor performance; contractures; spinal muscular atrophy; myotonic dystrophy; Duchenne muscular dystrophy; amyoplasia; arthrogryposis multiplex congenita;

   Sammanfattning : Aim: The aims of this study were to investigate muscle strength and motor function in children and adolescents with four neuromuscular disorders; 1) spinal muscular atrophy (SMA), 2) myotonic dystrophy (DM), 3) Duchenne muscular dystrophy (DMD and 4) the amyoplasia form of arthrogryposis multiplex congenita. Further: 1) to analyze compensatory maneuvers due to muscle weakness in individuals with SMA, 2) to correlate motor function in individuals with DM with the size of the mutation, 3) to evaluate the long-term side effects and effects on muscle strength, motor function, vital capacity and development of scoliosis in boys with DMD treated with low-dose prednisone, and 4) to investigate how muscle strength and joint contractures affect motor function in individuals with amyoplasia and to relate current status to joint position at birth. LÄS MER

3. 2. Experiences of care and everyday life in a time of change for families in which a child has spinal muscular atrophy

   Författare :Elin Hjorth; Malin Lovgren; Ulrika Kreicbergs; Thomas Sejersen; Maria Björk; Ersta Sköndal Bräcke högskola; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinal muscular atrophy; family; advice; paediatric palliative care; health care professional; parental perception; hope; resilience; Människan i välfärdssamhället; Palliativ vård; The Individual in the Welfare Society; Palliative Care;

   Sammanfattning : This thesis focuses on children with severe spinal muscular atrophy (SMA) and their families. Although the disease is severe, and the families are faced with challenges in everyday life related to the progressive muscle weakness that SMA causes, knowledge of their experiences of the situation is limited. LÄS MER

4. 3. Functional ability in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy assessed with the EK scale

   Författare :Birgit F Steffensen; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Duchenne muscular dystrophy; EK scale; functional ability; natural history; nonambulatory stage; predictor; reliability; scoliosis; spinal muscular atrophy; treatment; validity.;

   Sammanfattning : Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are neuromuscular diseases characterised by profound global skeletal muscle weakness leading to severe physical disability. The EK scale, an instrument for assessment of functional ability in non-ambulatory people with DMD or SMA, was developed. LÄS MER

5. 4. Spinal and bulbar muscular atrophy : new insights into the disease mechanism and prospects for pharmacological therapy

   Författare :Laura C Bott; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Expansion of a polyglutamine-encoding trinucleotide CAG repeat in the androgen receptor (AR) gene causes spinal and bulbar muscular atrophy (SBMA, or Kennedy’s disease). SBMA is an adult-onset disease characterized by progressive muscle weakness and atrophy due to the degeneration of lower motor neurons in the brainstem and spinal cord. LÄS MER

7. 5. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

   Författare :Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

   Sammanfattning : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. LÄS MER