Neuromuscular Disorders

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...

Annika Aldenbratt, Christopher Lindberg, Maria K Svensson September 6, 2017

• Patients with Myotonic Dystrophy type 1 (DM 1) have a slight decrease in renal function• No association was found between measured renal function and number of CTG repeats.• CTG repeats were correlated to creatinine-based estimates of renal function• This correlation was explained by an indirect effect via skeletal muscle mass• Mechanisms behind the decrease in renal function will need further evaluation.… Read More...

Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini September 6, 2017

• First study to report occurrence of dropped head syndrome in MCAD and VLCAD.• Hitherto unreported, presence of ptosis and bulbar weakness in VLCAD.• Compilation of FAO disorders presenting as primary myopathy.• Description of muscle MRI findings in FAO.

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