Neuromuscular Disorders

Volker Straub, Alexander Murphy, Bjarne Udd, 229th ENMC workshop study group May 25, 2018

Historically the classification and nomenclature of diseases hasn’t been systematic and diseases were either classified by cause, presenting symptoms and signs, pathological features and organs involved, or they were named after the experts that first described them. An improved understanding of pathomechanisms, the identification of disease genes and an increase in the number of distinct disease entities led to nosological coding systems that are regularly updated and revised.… Read More...

Andrew R. Findlay, Matthew B. Harms, Alan Pestronk, Conrad C. Weihl May 21, 2018

External ophthalmoplegia is seen in a wide variety of neuromuscular disorders including congenital myopathies, mitochondrial disorders, congenital myasthenic syndromes, and oculopharyngeal muscular dystrophy. A subset of patients with external ophthalmoplegia and variable degrees of skeletal muscle weakness have been found to harbor MYH2 mutations.[1] Autosomal dominant (AD) mutations in MYH2, have classically presented with congenital joint contractures that resolve with time, adolescent onset external ophthalmoplegia, and progressive proximal weakness.… Read More...

Teodora Chamova, Stoyan Bichev, Tihomir Todorov, Mariana Gospodinova, Ani Taneva, Kristina Kastreva, Dora Zlatareva, Martin Krupev, Rosen Hadjiivanov, Velina Guergueltcheva, Liliana Grozdanova, Dochka Tzoneva, Angela Huebner, Maja v. der Hagen, Benedikt Schoser, Hanns Lochmüller, Albena Todorova, Ivailo Tournev May 17, 2018

Telethonin is a 167 amino acid protein of 19 kDa which is highly expressed in skeletal and cardiac muscles and encoded by the two exons of the TCAP gene on chromosome 17q12 [1]. Located at the Z-disc, it provides binding sites to link titin and other Z-disc associated proteins during sarcomere assembly.… Read More...

Ingrid E.C. Verhaart, Lenie van den Engel-Hoek, Marta L. Fiorotto, Mirjam Franken-Verbeek, Elizabeth Vroom, workshop participants May 17, 2018

Twenty-six representatives of academia, clinics, patient organisations and industry from eight countries (Argentina; Australia; Belgium; Italy; the Netherlands; Switzerland; United Kingdom; United States) attended the workshop on ‘Nutrition in Duchenne muscular dystrophy’ organised by the Duchenne Parent Project the Netherlands (DPP).… Read More...

Linchao Meng, Jun Fu, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan May 16, 2018

Hereditary peripheral neuropathies comprise a heterogeneous spectrum of disorders, for which more than 100 different subtypes have been identified, with each having its own specific clinical characteristics, pathophysiology and prognosis [1,2]. In addition to length dependent neuropathies, there were several types of hereditary peripheral neuropathies with unusual symptoms, such as the central nerve system involvement in X-linked Charcot-Marie-Tooth disease [3,4], focal segmental glomerulosclerosis in INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy [5], cardiomyopathy in hereditary transthyretin amyloidosis [6], C12orf65 gene related distal motor neuropathy with optic atrophy [7].… Read More...

Pia Romana Quitt, Marjo Kristiina Hytönen, Kaspar Matiasek, Marco Rosati, Andrea Fischer, Hannes Lohi May 11, 2018

Non-dystrophic myotonias are a group of skeletal channelopathies including myotonia congenita and the sodium channel myotonias (paramyotonia congenita, potassium-aggravated myotonia, hyperkalemic periodic paralysis among others) caused by mutations affecting skeletal muscle ion channels (CLCN1, chloride voltage-gated channel 1; SCNA4, sodium voltage-gated channel alpha subunit 4) [1].… Read More...

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