M. Oliveira Santos, R. Taipa, M. Pires, I. Conceição September 13, 2017

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by acid alfa-glucosidase (GAA) deficiency. Late-onset phenotype is heterogeneous, and it may include ptosis and/or bulbar weakness. Since 2006 enzyme replacement therapy with alglucosidase alfa has become available with the best benefit depending on residual muscle function.… Read More...

M. Cerino, S. Gorokhova, P. Laforêt, R. Ben Yaou, E. Salort-Campana, J. Pouget, S. Attarian, B. Eymard, J. Deleuze, A. Boland, A. Behin, T. Stojkovic, G. Bonne, N. Lévy, M. Bartoli, M. Krahn September 13, 2017

Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy.… Read More...

J. Molenaar, J. Verhoeven, N. Voermans, J. Mathieu, G. Vattemi, J. Franques, T. Kuntzer, L. Guyant-Marechal, S. Vicart, A. Behin, C. Erasmus, B. Brandom, E. Matthews, K. Suetterlin, B. van Engelen, D. Sternberg, B. Eymard September 13, 2017

Brody disease is a rare recessive myopathy characterized by exercise-induced muscle-stiffness, caused by mutations in the ATP2A1-gene, which encodes the sarcoplasmic reticulum calcium ATPase type 1 (SERCA-1) protein. Almost fifty years after the first patient with Brody disease was reported, the clinical picture is still unclear and results of ancillary investigations remain inconclusive.… Read More...

M. Huizing, P. Leoyklang, B. Class, C. Ciccone, A. Glowacki, C. Jodarski, J. Perrault, W. Gahl, N. Carrillo, M. Malicdan September 13, 2017

GNE myopathy is a rare, adult onset, muscle disorder of progressive muscle weakness and atrophy, caused by deficiency of the key enzyme in sialic acid (NeuAc) biosynthesis. Effective biomarkers for diagnosis and response to therapy are lacking for this disorder. Qualitative lectin staining of muscle biopsies from GNE myopathy humans and mice demonstrated reduced sarcolemmal sialylation, and mouse sarcolemma re-sialylation upon oral therapy with the sialic acid precursor N-acetylmannosamine (ManNAc).… Read More...

G. Remiche, P. Baudin, C. Buon, J. Praline, K. Auré, M. Abramowicz, D. Sternberg, S. Nicole September 13, 2017

Periodic paralyses (PP) are classically dominantly inherited diseases due to CACNA1S or SCN4A mutations. We describe a Moroccan consanguineous family in which two siblings presented a recessively-inherited form of PP. The proband’ symptoms initiated at 17 years and normokaliemic PP episodes duration occurred until 10 days.… Read More...

S. Servidei, G. Primiano, V. Muto, C. Cuccagna, D. Bernardo, D. Sauchelli, C. Sancricca, M. Lucchini, M. Mirabella, M. Tartaglia September 13, 2017

Plectin, a giant multifunctional cytolinker protein, plays a crucial role in orchestrating intermediate filament networks in a wide variety of tissues, as epithelia, skeletal muscle and heart. Mutations of the plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), EBS-MD with myasthenic features, EBS with pyloric atresia, EBS-Ogna, and LGMD2Q.… Read More...

E. Matthews, A. Silwal, R. Sud, A. Manzur, M. Hanna, F. Muntoni, P. Munot September 13, 2017

Skeletal muscle channelopathies (SMC) are rare inherited childhood onset disorders. Average time to diagnosis from first symptom is 19 years which is a missed opportunity to treat them in childhood. We performed a retrospective case-note review of 44 genetically confirmed patients with SMC at a tertiary centre in UK.… Read More...

X. Zhang, S. Yamashita, N. Tawara, T. Doki, Z. Zhang, K. Hara, Y. Matsuo, M. Nagai, Y. Ando September 13, 2017

Vocal cord and pharyngeal weakness with distal myopathy (VCPDM) is an adult-onset autosomal-dominant distal myopathy frequently associated with dysphagia and dysarthria. Mutations in the matrin 3 (MATR3) gene have been identified as a cause of VCPDM, as well as amyotrophic lateral sclerosis (ALS).… Read More...

K. Suetterlin, R. Sud, J. Burge, S. McCall, D. Fialho, A. Haworth, M. Sweeney, H. Houlden, S. Schorge, E. Matthews, M. Hanna, R. Mannikko September 13, 2017

Sequencing of CLCN1, the gene that encodes the skeletal muscle chloride channel CLC-1, is the gold standard for the diagnosis of myotonia congenita (MC) a condition that presents with compromised muscle relaxation. Loss-of-function mutations in CLCN1 underlie both the recessive and dominant form of MC.… Read More...

S. Leonard Louis, M. Touat, T. Maisonobe, Y. Allenbach, O. Benveniste, D. Psimaras, T. Lenglet, O. Hadj Salem, N. Kramkimel, J. Cadranel, C. Lethrosne, J. Bruch, P. Laly, S. Knauβ, W. Stenzel September 13, 2017

Immune checkpoint blockers (ICBs) of programmed death-1 receptor (PD1) are new efficient therapies for malignancies. Due to their mechanism of action, they can trigger various immune-related adverse events, among which myositis that we are going to describe in this retrospective case series of seven treated cancer patients.… Read More...

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