BACKGROUND Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy.No therapy is available for FSHD. CASE PRESENTATION We describe the effects of 6mo exercise therapy and nutritional supplementation in a 43-year-old woman severely affected by FSHD. CONCLUSION A mixed exercise program comb...

Eleven thoracoscapular fusion operations have been done on six patients. The indication is symptomatic winging of the scapula caused by thoracoscapular muscle paresis with intact function in the deltoid. This situation almost exclusively occurs in facioscapulohumeral dystrophy. The operation is successful in achieving stability of the scapula and in greatly improving function and cosmesis. Alth...

During the 171st European Neuromuscular Centre international workshop Standards of care and management of facioscapulohumeral muscular dystrophy (FSHD) in January 2010 [1], it was concluded that there was a need for further discussion to better define the “gold standard” for diagnostic procedures for FSHD. With the increasing complexity of the genetics of FSHD, it is important to reach an inter...

A questionnaire about the interest in and demand for preclinical diagnosis for facioscapulohumeral muscular dystrophy (FSH) was sent to 46 patients. Most stated that they would have liked to have known their diagnosis earlier in order to seek more efficient help, to avoid strenuous activities, to prepare themselves emotionally, or to choose an appropriate profession. Similar arguments were used...

BACKGROUND The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance. METHODS We previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databa...

A short report is provided of an interview survey of 69 parents of boys suffering from Duchenne muscular dystrophy to determine their views of neonatal screening and their experiences at the time of diagnosis. Most of the parents favored screening in the neonatal period or in early infancy, and most of them expressed dissatisfaction with present delays, methods of disclosure, and subsequent su...