Neuromuscular Disorders

C. Brogna, L. Cristiano, T. Verdolotti, L. Ficociello, M.C. Pera, L. Antonaci, R. De Sanctis, A. Pichiecchio, C.M. Cinnante, T. Tartaglione, C. Colosimo, M. Pane, E. Mercuri September 13, 2019

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of alpha motor neurons, clinically associated with muscle weakness, hypotonia and muscle atrophy. The weakness is predominant in the proximal muscles, with lower limbs often more involved than upper limbs with a typical distribution [1].… Read More...

Astrid Pechmann, Matthias Eckenweiler, David Schorling, Dimitra Stavropoulou, Hanns Lochmüller, Janbernd Kirschner September 13, 2019

Non-dystrophic myotonias are a rare group of neuromuscular disorders caused by variants in skeletal muscle sodium (SCN4A) or chloride (CLCN1) channels genes. Variants in SCN4A are associated with different phenotypes such as paramyotonia congenita, hyper- or hypokalemic periodic paralysis, sodium channel myotonia but also with congenital myasthenic syndromes and congenital myopathies [1, 2].… Read More...

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh-Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie A. Parsons, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloglu, Tawfeg Ben-Omran, Valeria A. Sansone, Yuh-Jyh Jong, Francy Shu, John F. Staropoli, Douglas Kerr, Alfred W. Sandrock, Christopher Stebbins, Marco Petrillo, Gabriel Braley, Kristina Johnson, Richard Foster, Sarah Gheuens, Ishir Bhan, Sandra P. Reyna, Stephanie Fradette, Wildon Farwell, NURTURE Study Group September 13, 2019

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease associated with progressive and often severe muscle weakness and atrophy and is a leading cause of death in infants [1-4]. SMA is caused by homozygous deletions (∼95% of SMA patients) or compound heterozygous mutations (∼5% of SMA patients) in the survival motor neuron 1 (SMN1) gene that prevent production of full-length functional SMN protein.[5] The paralogous gene SMN2 undergoes aberrant splicing and produces mostly truncated, dysfunctional protein (∼90%) [1].… Read More...

Adele D'Amico, Fabiana Fattori, Chiara Fiorillo, Maria Giovanna Paglietti, Maria Beatrice Chiarini Testa, Margherita Verardo, Michela Catteruccia, Claudio Bruno, Enrico Bertini September 7, 2019

Nemaline myopathies (NEMs) are a heterogeneous group of hereditary myopathies characterized by skeletal muscle weakness and the presence of rod-like structures in skeletal muscle fibers. So far, 13 autosomal genes have been identified as causative for NEM. These comprise ACTA1, NEB, TPM2, TPM3, CFL2, KHLH40, KLHL41, KBTBD13, LMOD3, MYPN, MYO18B, TNNT1 and TNNT3 [1-13].… Read More...

K. de Valle, J.L. McGinley, I. Woodcock, M.M. Ryan, F. Dobson September 7, 2019

Individuals with facioscapulohumeral dystrophy report altered physical function, such as difficulty lifting objects, impaired walking, reduced balance, and the inability to alter facial expression [4]. Facioscapulohumeral dystrophy, or FSHD, is the third most common of the muscular dystrophies, with an estimated prevalence of 5-13 in 100,000 [5].… Read More...

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