Neuromuscular Disorders

Jacqueline Montes, Sally Dunaway Young, Elena Mazzone, Marion Main, on behalf of the International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group September 6, 2017

• Strength, flexibility and function considerations for rehabilitation interventions for SMA• Clinical outcome measures used to evaluate disease status and progression for SMA• Assistive devices and technology resources for SMA

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Tiziana Lencioni, Giuseppe Piscosquito, Marco Rabuffetti, Gabriele Bovi, Enrica Di Sipio, Manuela Diverio, Isabella Moroni, Luca Padua, Emanuela Pagliano, Angelo Schenone, Davide Pareyson, Maurizio Ferrarin September 6, 2017

Charcot–Marie–Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, with a prevalence of one case in 2500 people [1]. The clinical phenotype is usually characterized by skeletal deformities, distal muscle weakness and atrophy, sensory impairment and reduced-to-absent deep tendon reflexes, leading to walking impairment (i.e.… Read More...

P.Y.K. Van den Bergh, Y. Sznajer, V. Van Parys, W. van Tol, R.A. Wevers, D.J. Lefeber, L. Xu, M. Lek, D.G. MacArthur, K. Johnson, L. Phillips, A. Töpf, V. Straub September 6, 2017

Limb girdle muscular dystrophies (LGMD) represent an increasingly large and heterogeneous group of autosomal dominant and recessive disorders. In many patients, the molecular origin remains unknown and next generation sequencing has become a very important tool to hasten the genetic diagnosis and to identify variants and mutations in genes not previously associated with LGMD.… Read More...

Ruxandra Cardas, Catrinel Iliescu, Nina Butoianu, Andreea Seferian, Svetlana Gataullina, Elena Gargaun, Juliette Nectoux, Thierry Bienvenu, Dana Craiu, Teresa Gidaro, Laurent Servais September 6, 2017

Duchenne muscular dystrophy (DMD, MIM # 310200) is an X-linked recessive condition affecting approximately one in 5000 live male births [1]. It is caused by mutation in the DMD gene (MIM # 300377) that leads to the absence or disruption of expression of the protein called dystrophin, found in a variety of tissues including skeletal and cardiac muscle and the central nervous system (CNS).… Read More...

Daisuke Kondo, Koji Shinoda, Ken-ichiro Yamashita, Ryo Yamasaki, Akihiro Hashiguchi, Hiroshi Takashima, Jun-ichi Kira September 6, 2017

Charcot–Marie–Tooth disease (CMT) is a group of hereditary polyneuropathies classified by heredity and pathology as either demyelinating or axonal [1]. CMT type 4H (CMT4H) is a rare autosomal recessive demyelinating form characterized by early disease onset and slow progression [2–7]. Several mutations in FDG4, a member of the family of Cdc42-specific guanine nucleotide exchange factors, have been identified as causative in CMT4H.… Read More...

Gisèle Bonne, Thomas Voit, Thomas Voit September 6, 2017

On behalf of the Local Organising Committee, we welcome you to the 22nd International Annual Congress of the World Muscle Society held for the first time in France in Saint Malo on the Brittany coast. This is the premier annual congress on neuromuscular disorders, attended by established and young physicians, researchers, therapists and neuropathologists from all over the world.… Read More...

Jørgen Jeppesen September 6, 2017

Patient and disability organization has its unique history in every country depending on culture, economy, health politics, and people involved, to mention a few important determinants. In Denmark, a charismatic individual, Evald Krog, played a decisive role in founding Muskelsvindfonden, the patient association that paved the way for the creation of an unprecedented national specialist centre in neuromuscular rehabilitation for all citizens with a confirmed diagnosis [1].… Read More...

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