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Fatigue, a highly debilitating symptom, is reported in most patients with immune-mediated neuropathies, particularly in Guillain-Barre syndrome, chronic immune-mediated demyelinating polyradiculoneuropathy, monoclonal gammopathy of undetermined significance related polyneuropathy, and multifocal motor neuropathy. Aspects like the degree of known fatigue in these disorders, its impact on daily functioning and quality of life, the suggested underlying mechanisms, and possible therapeutic interventions for fatigue will be addressed in this review. (C) 2012 Elsevier B.V. All rights reserved.

Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different types of muscular dystrophies. Some mainly lead to myocardial disease, resulting in cardiomyopathy and heart failure, while others particularly affect the conduction system, leading to arrhythmias and sudden death. As prognosis of muscular dystrophy patients may be directly related to cardiac status, surveillance and timely management of cardiac complications are important. However, recognition of cardiac involvement requires active investigation and remains challenging since typical signs and symptoms of cardiac dysfunction may not be present and progression is unpredictable. In this review, we present a comprehensive overview of hereditary muscular dystrophies associated with cardiac disease to provide an efficient strategy for the expertise and management of these diseases. (C) 2010 Elsevier B.V. All rights reserved.

Contains fulltext : 51646.pdf (Publisher’s version ) (Closed access) Each of the various neuromuscular diseases is rare. Consequently, solid epidemiological data are not available and it is often difficult to find sufficient patients for studies. For this reason, the Dutch neuromuscular database, CRAMP (Computer Registry of All Myopathies and Polyneuropathies), was developed in 2004 by the Dutch Neuromuscular Research Support Centre, to store information on patient characteristics and diagnoses (based on Rowland and McLeod's classification) in a uniform and easily retrievable manner. Care was taken to preserve data confidentiality. It is envisaged that CRAMP will prove particularly useful for studies in which multicentre collaboration is needed to recruit a sufficiently large number of patients. More than 10,000 patients with neuromuscular diseases (4,837 female, 5,476 male) have been registered since 2004, half of whom (n=5059) have peripheral nerve disorders.

Dystrophinopathy patient registries are very useful for improvement of standard care and planning of clinical trials. The Dutch Dystrophinopathy Database contains information of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients in the Netherlands. The historical incidence of DMD is estimated at 20 boys per year and unknown for BMD. DMD and BMD patients received information through patient organisations, treating physicians, the genetic test centre or a website ( www.lumc.nl/duchenne ). Included patients gave consent for registration in the national patient registry and the international TREAT-NMD database, permission to contact their physician and filled out a questionnaire about their disease course. On January 2013 the database contained disease milestones of 420 DMD and 140 BMD patients, including data from 78 deceased DMD and 16 deceased BMD males. 324 DMD and 104 BMD patients have a DNA confirmed diagnosis. The mean yearly incidence for DMD was 18 between 1980 and 2000. Given a mean life expectancy of 27 years this would suggest a prevalence of 486 DMD patients, and thus an inclusion rate in the database of 70%. The mean yearly incidence for BMD was 4 between 1960 and 2000. The mean life expectancy was 55 years suggesting a prevalence of 220 BMD patients, and thus an inclusion rate in the database of 56%. In the DNA confirmed DMD cohort mean age at diagnosis decreased from 5.6 years before 1970 to 4.0 years more recently. The mean age at loss of ambulation increased to 9.8 years and for scoliosis surgery to 14 years. Age at start of mechanical ventilation ranged from 14 to 28 years. Close collaboration during five years between patient organisations, physicians and researchers resulted in a patient registry covering three quarters of all Dutch DMD patients. The yearly update is a constant challenge, but the advantage is one national registry representative for the whole population, limiting selection bias to a minimum.