Neuromuscular Disorders

Dr Jennifer Lemon, Dr Lucy Turner, Dr Poonam Dhamaraj, Dr Stefan Spinty May 9, 2019

We read with interest the recent article by Ivanyuk and colleagues [1] who presented two cases of suspected Zoledronate induced rhabdomyolysis with myoglobinuria in boys with Duchenne Muscular Dystophy (DMD). Since 2014, 13 patients affected by DMD and steroid induced osteoporosis have been treated at our centre with intravenous Zoledronate.… Read More...

Gaia Scarpini, Carlotta Spagnoli, Grazia Gabriella Salerno, Susanna Rizzi, Daniele Frattini, Carlo Fusco May 4, 2019

In a recent paper Meng et al. [1] described three Chinese patients with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM), caused by mutations in the histidine triad nucleotide binding protein (HINT1) gene.

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Ting Lin, Paul Gibbons, Anita J. Mudge, Kayla M.D. Cornett, Manoj P. Menezes, Joshua Burns April 26, 2019

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies affecting 3 to 82 per 100,000 individuals of both sexes and all backgrounds [1]. CMT is characterised by demyelination and/or axonal degeneration of the peripheral nerves, with typical onset in the first two decades of life [2,3].… Read More...

A.L. Frongia, D. Natera-de Benito, C. Ortez, M. Alarcón, A. Borrás, J. Medina, M. Vigo, N. Padrós, O. Moya, J. Armas, L. Carrera-García, J. Expósito-Escudero, D. Cuadras, S. Bernal, L. Martorell, J. Colomer, A. Nascimento April 19, 2019

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in the gene encoding survival motor neuron 1 (SMN1), which result in a degeneration of motor neurons in the spinal cord and brain stem [1].… Read More...

Sarah J. Beecroft, Martijn van de Locht, Josine M. de Winter, Coen A. Ottenheijm, Caroline A. Sewry, Shehla Mohammed, Monique M. Ryan, Ian R. Woodcock, Lauren Sanders, Rebecca Gooding, Mark R. Davis, Emily C. Oates, Nigel G. Laing, Gianina Ravenscroft, Catriona A. McLean, Heinz Jungbluth April 12, 2019

Mutations in MYH7 cause a wide range of cardiac and skeletal muscle diseases, including both dilated and hypertrophic cardiomyopathy (MIM 613426, MIM192600), left ventricular non-compaction (MIM 613426), dominant and recessive myosin storage myopathy (MSM, MIM 608358, MIM 255160), Laing distal myopathy (MIM 160500), scapuloperoneal myopathy (MIM 181430) [1,2], and subgroups of congenital myopathies with characteristic histopathological features such as multi-minicores [3] and myofiber type disproportion with small type I myofibers [4].… Read More...

Simona Saredi, Sara Gibertini, Leslie Matalonga, Laura Farina, Anna Ardissone, Isabella Moroni, Marina Mora April 10, 2019

The autosomal recessive congenital muscular dystrophy type 1A (MDC1A) results from a variety of mutations, either missense, nonsense, deletions or splice site variants, in the LAMA2 gene [1]. The LAMA2 gene, comprising 65 exons, encodes the α2 chain subunit of laminin-2 (merosin).… Read More...

Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima, Ryuji Kaji March 28, 2019

PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations.… Read More...

Didem Ardicli, Anna Sarkozy, Irina Zaharieva, Charu Deshpande, Istvan Bodi, Ata Siddiqui, Jean Marie U-King-Im, Amy Selfe, Rahul Phadke, Heinz Jungbluth, Francesco Muntoni March 28, 2019

Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are individually rare and highly heterogeneous conditions, characterized by congenital/early onset muscle weakness and characteristic muscle biopsy findings compatible with a dystrophic or myopathic process, respectively. The clinical complexity of CMDs and CMs is mirrored by their wide genetic heterogeneity.… Read More...

G Toksoy, H Durmus Tekce, A Aghayev, G Bagirova, B Sevinc Rustemoglu, S Basaran, S Avcı, B Karaman, Y Parman, U Altunoglu, Z Yapici, P Tekturk, F Deymeer, H Topaloglu, H Kayserili, P Oflazer-Serdaroglu, ZO Uyguner March 28, 2019

Dystrophinopathy is a group of X linked muscle diseases caused by pathogenic DMD variants that manifest in a clinical spectrum ranging from asymptomatic hyperCKemia and muscle cramps with myoglobinuria at the mild end to Becker muscular dystrophy (BMD, MIM 300376), DMD-associated dilated cardiomyopathy (XL-DCM, MIM 302045) and Duchenne muscular dystrophy (DMD, MIM 310200) at the severe end.… Read More...

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