New Search

If you are not happy with the results below please do another search

21 search results for: congenital muscular dystrophy

11

Patient registries of rare, inherited muscular disorders

Statement 157th ENMC International Workshop The ENMC hosted a group of experts for a discussion on patient registries for rare, inherited muscular disorders. The ENMC Workshop was aimed at collaborative action towards patient registries for these disorders in Europe and world-wide. Harmonizing practices, joining forces and merging experience on patient registries should facilitate research into rare, inherited muscle […]

12

The management of cardiac complications in muscular dystrophy and myotonic dystrophy

Many muscle disorders have significant involvement of the heart, and recognizing and treating this can be very important for patient care, even life-saving. Sixteen participants from Austria, France, Germany, Italy, the Netherlands and the United Kingdom met to discuss the evidence for the way that we manage the cardiac involvement often found in different muscular […]

13

Cognitive Impairment in Neuromuscular Disorders

Location: Naarden, The Netherlands   As many neuromuscular disorders involve brain as well as muscle, the ENMC consortium on cognitive impairment in neuromuscular disorders held its first meeting in Naarden (The Netherlands) on the 13-15 July 2001. It was attended by 15 participants from the United Kingdom, France and Italy. The meeting opened with reviews […]

14

Collagen VI related myopathies

Twenty-four participants from 8 countries (Australia; England; France; Germany; Italy; Switzerland; Turkey; USA) attended an ENMC workshop on the topic of collagen VI-related myopathies which include the diseases known as Ullrich congenital muscular dystrophy (UCMD) and Bethlem Myopathy (BM). Participants included biochemists, biologists, molecular geneticists, neurologists, paediatricians and representatives of a patient advocacy organization and pharmaceutical […]

15

The 3rd ENMC workshop on Dystroglycan and the Dystroglycanopathies

The 3rd ENMC workshop on Dystroglycan and the Dystroglycanopathies   Number 257 Date 10-12 June 2022 Location: Hoofddorp Organizers Prof Kevin Campbell (Iowa City, USA) and Dr. Volker Straub (Newcastle upon Tyne, UK) We are grateful to the LGMD2i Fund for contributing to travel expenses for speakers from non-ENMC member countries. Description The 257th ENMC Workshop […]

16

Clinical trial readiness in nemaline myopathy

Location: Hoofddorp, the Netherlands Title: Clinical trial readiness in nemaline myopathy Date: 6 – 8 September 2019 Organisers: Dr J. C. Bönnemann (USA), Prof. U. Schara (Germany), Prof. L. Servais (France), Dr C. Wallgren-Pettersson (Finland) Translations of this report by: Dutch by N. Voermans Finnish by Dr. C. Wallgren-Pettersson French by Ms M. Annoussamy German […]

20

Multi-minicore Disease

Location: Naarden, The Netherlands   Fifteen clinicians and basic scientists convened from 8th – 9th November in Naarden, The Netherlands for the 2nd ENMC sponsored Workshop on Multi-minicore Disease (MmD). The 1st ENMC sponsored workshop on MmD in May 2000 had lead to collaborations between the participating groups, resulting over the ensuing two years in […]