Sökning: "hypotonia"

Visar resultat 1 - 5 av 8 avhandlingar innehållade ordet hypotonia.

1. 1. Potential therapies and biomarkers for LAMA2-CMD. Does the microRNA hype deliver?

   Författare :Bernardo Moreira Soares Oliveira; Muskelbiologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; genetic-markers; Small non-coding RNAs;

   Sammanfattning : Laminin α2 chain-deficient muscular dystrophy, or LAMA2-CMD, is a very severe disease caused by mutations in the LAMA2 gene. Skeletal muscle is the most affected tissue, with patients presenting symptoms such as hypotonia at birth, joint contractures and progressive muscle wasting. LÄS MER

3. 2. Congenital muscular dystrophy with laminin α2 chain-deficiency. Initiation of disease and development of treatment

   Författare :Zandra Körner; Muskelbiologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; Muscular dystrophy; Autophagy; proteasome; Laminin; MDC1A;

   Sammanfattning : Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused bymutations in the LAMA2 gene, encoding the basement membrane protein lamininα2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressivemuscle wasting and hypotonia, joint contractures that mostly affect elbows, hips,knees and ankles along with scoliosis and delayed motor milestones. LÄS MER

4. 3. Energy metabolism and clinical symptoms in beta-oxidation defects, especially long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency

   Författare :Charlotte Bieneck Haglind; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a severe inborn error in the beta-oxidation of long-chain fatty acids. The disease presents during the first years of life. Hypoglycemia, hepatic manifestations, muscle hypotonia and episodes of rhabdomyolysis, cardiomyopathy and even sudden death are common symptoms. LÄS MER

5. 4. Comorbidity and mortality in Prader-Willi syndrome

   Författare :Hasanain Shukur; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Background: Prader-Willi syndrome (PWS) is a multisymptomatic, rare, genetic, disorder, due to lack of the expression of paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities, and endocrine deficiencies. LÄS MER

7. 5. Disorders of the cerebral white matter in children

   Författare :Ragnhildur Kristjánsdóttir; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; leukoencephalopathy - children - neurological impairments - magnetic resonance imaging - ophthalmology - visual evoked potentials - cerebrospinal fluid - sulfatide - glial fibrillary acidic protein - gangliosides - neurofilament - tau protein - monoamine metabolites;

   Sammanfattning : The aims of this thesis were to describe the clinical spectrum in a large group of children characterised as having an abnormal magnetic resonance imaging (MRI) signal from cerebral white matter (WM) and to study the radiological, clinical and ophthalmological features in that subgroup where aetiology was unknown. We also wanted to look at biochemical markers in the cerebrospinal fluid (CSF) to elucidate pathological processes which were responsible for the WM abnormalities. LÄS MER