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Neuromuscular Disorders: NMD

Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Yim Pui Chu, Bun Sheng, Kwok Kwong Lau, Hiu Fai Chan, Grace Yee Wai Kam, Hencher Han Chih Lee, Chloe Miu Mak
Late onset Pompe disease is a rare inherited metabolic disease with diverse clinical manifestation. However, there is a lack of local data in Hong Kong. We aimed at performing an in-depth review of natural history of all patients in Hong Kong. Eleven patients were diagnosed to have the disease in Hong Kong from 2000 to 2013. All case records were reviewed and face-to-face interviews were conducted to complete a questionnaire regarding the clinical manifestation and diagnosis of the disease. The estimated birth incidence was 1/300,000...
September 13, 2016: Neuromuscular Disorders: NMD
Monica Lavian, Namita Goyal, Tahseen Mozaffar
We present a case of a 65-year-old woman who was previously diagnosed with idiopathic granulomatous myositis and treated with immunosuppressive therapy for the next 10 years before a clinical diagnosis of inclusion body myositis was made. A review of the previously performed muscle biopsy showed most of the cardinal myopathologic features of sporadic inclusion body myositis, in addition to the granuloma. Her clinical course was strongly suggestive of inclusion body myositis with selective asymmetric weakness of forearm flexor muscles and quadriceps...
September 13, 2016: Neuromuscular Disorders: NMD
Olcay Ünver, Nilüfer Eldeş Hacıfazlıoğlu, Elif Karatoprak, Ayfer Sakarya Güneş, Güneş Sağer, Büşra Kutlubay, Gülhan Sözen, Sema Saltık, Kutluhan Yılmaz, Bülent Kara, Dilşad Türkdoğan
The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis...
September 6, 2016: Neuromuscular Disorders: NMD
Kiran Polavarapu, Mahadevappa Manjunath, Veeramani Preethish-Kumar, Deepha Sekar, Seena Vengalil, PriyaTreesa Thomas, Talakad N Sathyaprabha, Rose Dawn Bharath, Atchayaram Nalini
The purpose of this study was to describe the pattern of muscle involvement using MRI findings and correlate with functional as well as muscle strength measurements. Fifty genetically confirmed DMD children with a mean age of 7.6 ± 2.8 (4-15 years) underwent muscle MRI and qualitative assessment was done for muscle changes using Mercuri staging for fibro-fatty replacement on T1 sequence and Borsato score for myoedema on STIR sequence. Detailed phenotypic characterisation was done with Manual muscle testing (modified MRC grading) and Muscular Dystrophy Functional Rating Scale (MDFRS)...
September 5, 2016: Neuromuscular Disorders: NMD
Yukiko Mori, Satoshi Yamashita, Mai Kato, Teruaki Masuda, Koutaro Takamatsu, Toshihide Kumamoto, Ryogen Sasaki, Yukio Ando
Myotonia congenita is a non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction caused by a mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). We encountered a case of Thomsen disease with ptosis. A short tau inversion recovery MR imaging demonstrated high-intensity lesions in the levator palpebrae superioris muscles. Molecular genetic testing revealed a heterozygosity for the c.1439C>A (p.P480H) mutation in the CLCN1 gene...
September 3, 2016: Neuromuscular Disorders: NMD
Catherine Ashton, Reimar Junckerstorff, Chris Bundell, Peter Hollingsworth, Merrilee Needham
Necrotising Autoimmune Myopathy (NAM) presents as a subacute proximal myopathy with high creatine kinase levels. It is associated with statin exposure, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibody, connective tissue diseases, signal recognition particle (SRP) antibody and malignancy. This case series presents our Western Australian NAM patient cohort: comparing the subgroup presentations, biopsy appearance and treatment outcomes. We retrospectively collected data on patients diagnosed with NAM at the Western Australian Neuroscience Research Institute between the years 2000 and 2015...
September 3, 2016: Neuromuscular Disorders: NMD
Simone Gross, Andrea Fischer, Marco Rosati, Lara Matiasek, Daniele Corlazzoli, Rodolfo Cappello, Laura Porcarelli, Tom Harcourt-Brown, Konrad Jurina, Laurent Garosi, Thomas Flegel, Pia Quitt, Jessica Molin, Velia-Isabel Huelsmeyer, Henning Schenk, Gualtiero Gandini, Kirsten Gnirs, Stéphane Blot, Aurélien Jeandel, Massimo Baroni, Shenja Loderstedt, Gianluca Abbiati, Carola Leithaeuser, Sabine Schulze, Marion Kornberg, Mark Lowrie, Kaspar Matiasek
Recent views on Guillain-Barré syndrome (GBS) question the accuracy of classification into axonal and demyelinating subtypes that represent convergent neurophysiological phenotypes rather than immunological targets. Instead it has been proposed to clarify the primarily affected fibre subunit in nerve biopsies. As nerve biopsies rarely are part of routine work-up in human patients we evaluated tissues taken from companion animals affected by GBS-like polyradiculoneuropathy to screen for distribution of immune cells, targeted fibre components and segregating non-inflammatory lesions...
September 1, 2016: Neuromuscular Disorders: NMD
Amy E Vincent, Hannah S Rosa, Charlotte L Alston, John P Grady, Karolina A Rygiel, Mariana C Rocha, Rita Barresi, Robert W Taylor, Doug M Turnbull
Dysferlinopathies are caused by mutations in the DYSF gene and patients may present with proximal or distal myopathy. Dysferlin is responsible for membrane resealing, and mutations may result in a defect in membrane repair following mechanical or chemical stress, causing an influx of Ca(2+). Since mitochondria are involved in Ca(2+) buffering, we hypothesised that mitochondrial defects may be present in skeletal muscle biopsies from patients with mutations in this gene. The aim was to characterise mitochondrial defects in muscle from patients with dysferlinopathies...
August 29, 2016: Neuromuscular Disorders: NMD
P Devic, L Gallay, N Streichenberger, P Petiot
Amongst the heterogeneous group of inflammatory myopathies, focal myositis (FM) stands as a rare and benign dysimmune disease. Although FM can be associated with root and/or nerve lesions, traumatic muscle lesions and autoimmune diseases, its triggering factors remain poorly understood. Defined as an isolated inflammatory pseudotumour usually restricted to one skeletal muscle, clinical presentation of FM is that of a rapidly growing solitary mass within a single muscle, usually in the lower limbs. Electromyography shows spontaneous activity associated with a myopathic pattern...
August 26, 2016: Neuromuscular Disorders: NMD
Cuixia Tian, Brenda L Wong, Lindsey Hornung, Jane C Khoury, Lauren Miller, Jean Bange, Irina Rybalsky, Meilan M Rutter
Osteoporosis is a major problem in boys with Duchenne Muscular Dystrophy (DMD), attributable to muscle weakness and glucocorticoid therapy. Consensus regarding bone health assessment and management is lacking. Lumbar spine areal bone mineral density by dual-energy X-ray absorptiometry (DXA) is frequently the primary measure used, but has limitations for boys with DMD. We retrospectively studied 292 ambulant glucocorticoid-treated boys with DMD categorized by functional mobility score, FMS 1, 2 or 3. We assessed DXA whole body and lumbar spine areal bone mineral density and content Z-scores adjusted for age and height, lateral distal femur areal bone mineral density Z-scores, frequency of fractures, and osteoporosis by International Society for Clinical Densitometry 2013 criteria...
August 22, 2016: Neuromuscular Disorders: NMD
Tristan P C van Doormaal, Fred van Ruissen, Kai J Miller, Jessica E Hoogendijk
Two siblings with Charcot-Marie-Tooth (CMT) 1B due to a c.517G>C (p.Gly173Arg) mutation in the MPZ gene both developed an acute cauda syndrome with unbearable back pain radiating to both legs, progressive muscle weakness of the legs, and saddle hypesthesia with fecal and urinary incontinence. MRI showed in both patients a lumbar spinal canal totally filled with hypertrophic caudal nerve roots. We performed acute decompression. Postoperatively, in both patients, the back pain resolved immediately, there was a significant improvement of both the paresis of the legs and the hypesthesia, and there was a full return of continence...
August 22, 2016: Neuromuscular Disorders: NMD
Rubén Miranda, Serge Laroche, Cyrille Vaillend
Duchenne muscular dystrophy (DMD) is associated with non-progressive cognitive dysfunction including hippocampal-dependent memory deficits. Loss of the cytoskeleton-associated dystrophin protein in central inhibitory synapses, associated with consequent alterations in GABAergic function and synaptic plasticity, has been proposed as a primary mechanism responsible for cognitive impairments. However, several lines of evidence suggest a multifactorial etiology involving alternative signaling pathways, some of which could affect neuronal survival...
August 17, 2016: Neuromuscular Disorders: NMD
D Natera-de Benito, J Domínguez-Carral, N Muelas, A Nascimento, C Ortez, T Jaijo, R Arteaga, J Colomer, J J Vilchez
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and proximal limb weakness that sometimes entails the loss of ambulation...
August 15, 2016: Neuromuscular Disorders: NMD
Isabelle Richard, Jean-Pierre Laurent, Sebahattin Cirak, John Vissing
No abstract text is available yet for this article.
October 2016: Neuromuscular Disorders: NMD
Yi Shiau Ng, Steven A Hardy, Venice Shrier, Gerardine Quaghebeur, David R Mole, Matthew J Daniels, Susan M Downes, Jane Freebody, Carl Fratter, Monika Hofer, Andrea H Nemeth, Joanna Poulton, Robert W Taylor
Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later...
October 2016: Neuromuscular Disorders: NMD
Amy E Vincent, John P Grady, Mariana C Rocha, Charlotte L Alston, Karolina A Rygiel, Rita Barresi, Robert W Taylor, Doug M Turnbull
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have reported changes in mitochondrial morphology and cellular positioning, as well as clonally-expanded, large-scale mitochondrial DNA (mtDNA) deletions and focal respiratory chain deficiency in muscle of MFM patients...
October 2016: Neuromuscular Disorders: NMD
Alice Todeschini, Francesca Gualandi, Cecilia Trabanelli, Annarita Armaroli, Anna Ravani, Marina Fanin, Silvia Rota, Luca Bello, Alessandra Ferlini, Elena Pegoraro, Alessandro Padovani, Massimiliano Filosto
We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript...
October 2016: Neuromuscular Disorders: NMD
Savina Tincheva, Bilyana Georgieva, Tihomir Todorov, Alexey Savov, Slavena Tsaneva, Ivan Litvinenko, Vanyo Mitev, Albena Todorova
Myotonia congenita type Becker is an autosomal recessive nondystrophic skeletal muscle disorder, caused by mutations in the CLCN1 gene. The disease is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Here we report the results from molecular genetic testing of 6 families, referred for sequencing of the CLCN1 gene. The disease causing mutations were detected in 5 of the cases, representing diverse type of nucleotide changes: nonsense (p.Arg894*), splice-site (c...
October 2016: Neuromuscular Disorders: NMD
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