Methods to assess physical functioning in patients with spinal muscular atrophy and congenital myopathy

The overall aims of this thesis were to evaluate the applicability of standard assessment methods and their ability to evaluate and reflect physical characteristics in patients with spinal muscular atrophy. A second aim was to evaluate the prevalence and impact of fatigue in spinal muscular atrophy and congenital myopathy. Ulla Werlauffs ph.d.-afhandling fra 2013 (afhandlingen er på engelsk).



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Summary af Ulla Werlauff

Neuromuscular disorders encompass a variety of sub groups in which impaired muscle strength is the principal symptom, that in most cases are caused by mutations in genes that affect the neuromuscular unit.

Despite very different phenotypes, a common feature to all neuromuscular disorders is the impact on muscle strength, which influences all domains of function as defined in the International Classification of Function, disability and health. When the consequences of a neuromuscular disorder is evaluated, it is thus necessary to describe both capacity – defined as the impact on body functions - and capability – the impact on activity and participation.

This puts demands on the assessment methods used for evaluation, which alone or in combination should be able to provide a holistic picture of the patient.

The two disorders of interest in this thesis are spinal muscular atrophy (SMA) and congenital myopathy (CM). SMA represents a group of very weak patients in whom the natural course of disease hasn’t been well described due to lack of responsiveness in the methods used for evaluation of impairment and activity. Congenital myopathy is an umbrella term that covers a range of subtypes with similarities and differences but with experienced fatigue as a general clinical symptom, which seems to impact activity and participation, although this has never been investigated systematically.

The four studies encompassed by this thesis investigated how the characteristic features in the two disorders can be evaluated.

The results from studies I-III contribute to the knowledge on the natural history of SMA, and to the knowledge about which clinical assessment methods are the most applicable to evaluate impairment and activity in these weak patients.

The results suggest that upper limbs - where muscle strength and functions are best preserved in SMA - should be the area of focus if changes over time or results of interventions should be evaluated.

Study IV concerns the impact of fatigue as perceived by patients with SMA and CM. The hypothesis of fatigue being a problem in patients with CM was confirmed, and the applicability of an existing instrument to evaluate fatigue in the two disorders was illustrated. Experienced fatigue is easy to assess and provide important information on impact of function from the patients’ perspective.

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