Blog Archives

The authors of the present study have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family, more Finnish, Italian and US families with the same disease were identified, ultimately confirmed by mutations in the same gene. Of the total number of 28 examined … [Read more]

Demyelinating Charcot-Marie-Tooth disease (CMT) and chronic inflammatory demyelinating polyneuropathy (CIDP) are both demyelinating polyneuropathies. The differences in nerve enlargement degree and pattern at multiple evaluation sites/levels are not well known. In this study, the authors investigated the differences in nerve enlargement degree and the distribution pattern of nerve enlargement in patients with demyelinating CMT and … [Read more]

Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harbouring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). To identify the causative mutation in an autosomal recessive intermediate CMT (RI-CMT) family with childhood … [Read more]

Trial design for SMA depends on meaningful rating scales to assess  outcomes. In this study Rasch methodology was applied to 9 motor scales in SMA. Data from all 3 SMA types were provided by research groups for 9 commonly used scales. Rasch methodology assessed the ordering of response option thresholds, tests of fit, spread of … [Read more]

Physical training might delay the functional deterioration caused by disuse in boys with Duchenne muscular dystrophy (DMD). The “No Use Is Disuse” study is the first explorative, randomized controlled trial in boys with DMD to examine whether assisted bicycle training is feasible, safe, and beneficial. Ambulatory and recently wheelchair-dependent boys with DMD were allocated to … [Read more]

The role of plasmapheresis before thymectomy remains controversial. The aim of this study is to determine the peri-operative and post-operative outcome of a thymectomy between performing and not performing a pre-operative plasmapheresis. A retrospective chart review study was conducted in Chiang Mai University Hospital between January 2006 and December 2011. There were 86 myasthenia patients … [Read more]

AFM-Telethon is pleased to announce its Call for Proposals 2014. Its mission is to determine targets for research priorities, and to present them to the Board of Directors of AFM, and to launch the corresponding Call for Proposals. It evaluates the suitability and quality of the proposed research programs, and oversees, a posteriori, the quality … [Read more]

SMA Europe is pleased to announce its 6th international Call for SMA Research Projects.This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease.The overall goal of SMA-Europe is to help the dedicated … [Read more]

Congenital disorders of glycosylation (CDG) are rare genetic defects mainly in the post-translational modification of proteins via attachment of carbohydrate chains. Here, the authors describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan … [Read more]

Duchenne muscular dystrophy (DMD) typically occurs due to truncating mutations in the DMD gene that result in a lack of expression of the dystrophin protein in muscle fibers. A variety of therapies under development are directed toward restoring dystrophin expression at the subsarcolemmal membrane, including gene transfer. In a trial of intramuscular AAV-mediated delivery of … [Read more]