Specific non-malignant diseases

2016 ◽  
Author(s):  
Richard D.W. Hain ◽  
Satbir Singh Jassal
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Palliative Medicine ◽  
Muscular Atrophy ◽  
Medical Intervention ◽  
Mucopolysaccharidosis Type ◽  
Malignant Diseases ◽  
Batten's Disease ◽  
Type 3

The number of life-limiting conditions in paediatrics is vast, and paediatric palliative medicine is generally based equally on both malignant and non-malignant conditions. There are several medical conditions that are common enough for it to be helpful to know about them in more detail. As all the conditions, by definition, have no cure, it is best to tackle each symptom with which the child presents individually, never forgetting that medical intervention is not the only modality open to us. Common conditions, such as Duchenne muscular dystrophy, mucopolysaccharidosis type 1, mucopolysaccharidosis type 3, Batten’s disease, spinal muscular atrophy, and trisomy 18, are covered in this chapter. Details of clinical features and prognosis are described for each.

Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?

2020 ◽  
Vol 51 (05) ◽  
pp. 342-348
Author(s):  
Astrid Blaschek ◽  
Martin Rodrigues ◽  
Lena Ille ◽  
Mohammed Idriess ◽  
Therese Well ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscular Atrophy ◽  
Diagnostic Value ◽  
Outcome Parameter ◽  
New Therapeutic Approaches ◽  
Relevant Role ◽  
Exercise Induced ◽  
6 Minute Walk Test ◽  
The Impact

Abstract Objective Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disorder. The number of studies investigating new therapeutic approaches is substantially increasing. This study aims to investigate the impact and diagnostic value of exercise-induced fatigue in DMD, which has been proposed as a suitable outcome parameter in other conditions like spinal muscular atrophy. Patients and Methods A cohort of 55 DMD patients (49 of them treated with steroids and 9 with ataluren) underwent a total of 241 6MWT (mean 4.4 tests/patient) which were retrospectively analyzed. Exercise-induced fatigue was assessed by the ratio between the distance achieved in the sixth minute and the distance in the second minute of the 6MWT. In previous studies a quotient above 1 was defined as a sign of fatigue. Results The average fatigue quotient in the whole cohort of patients was 1.0. In a further analysis no impact of age, steroid therapy, ataluren therapy, overall disability, and distance in the 6-minute walk test (6MWT) on fatigue in DMD patients could be shown. Conclusion Our data show that fatigue does not play a relevant role in DMD. Analysis of fatigue is not a useful outcome parameter in DMD studies. For this reason we suggest the 2MWT, which is better accepted by the patients, as an alternative to the commonly 6MWT.

Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family

2008 ◽  
Vol 45 (2) ◽  
pp. 97-103
Author(s):  
Anders Oldfors ◽  
Tommy Martinsson ◽  
Ingemar Tessin ◽  
Jan Wahlström ◽  
Shu Wang
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type
Sign in / Sign up

Export Citation Format

Share Document