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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
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
Renata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, David Hilton-Jones, Anthony H Schapira, Chris Turner, Matt Parton, Mahalekshmi Desikan, Rita Barresi, Julie Marsh, Adnan Y Manzur, Anne-Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J Lamont, Gianina Ravenscroft, William Wallefeld, Mark R Davis, Nigel G Laing, Janice L Holton, Doreen Fialho, Kate Bushby, Michael G Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Ros Quinlivan
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here we present a series of eight patients from seven families presenting with exercise intolerance and rhabdomyolysis caused by mutations in CAV3 diagnosed by next generation sequencing (NGS) (n = 6)...
August 2016: Neuromuscular Disorders: NMD
Elisabetta D'Adda, Rosina Paletta, Fabio Brusaferri, Antonio Cagnana, Maria Teresa Ferrò, Michele Gennuso, Isabella Ghione, Riccardo Saponara, Alessandro Prelle
We report a 26-year-old woman admitted to our hospital for generalized tonic seizure. Laboratory investigations revealed severe hyponatremia possibly triggered by vomiting and diarrhea. 24 hours after correction of hyponatremia she developed diffuse myalgias and marked hyperCKemia. Syndrome of inappropriate antidiuresis (SIAD) was suspected as cause of hyponatremia. Abnormal vaginal bleeding prompts gynecological evaluation and a small-cell carcinoma of uterine cervix was detected.
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
Zoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, Tracey A Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
OBJECTIVE: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation. METHODS: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples with reduced enzyme activity were subsequently investigated for GAA gene mutations...
July 19, 2016: Neurology
Corrado I Angelini
In this issue of Neurology® Genetics, Endo et al.(1) report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far been recognized only as causing congenital muscular dystrophy (CMD).
December 2015: Neurology. Genetics
Dimitri Renard, Florence Erny, Dominique Figarella-Branger, Martin Krahn
No abstract text is available yet for this article.
April 2016: Neuromuscular Disorders: NMD
Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young Chul Choi
PURPOSE: This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND METHODS: Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed. RESULTS: Nine different mutations, including four novel mutations (NM_000070: c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c...
January 2016: Yonsei Medical Journal
Megan M Langille, Jay Desai
We describe a case of pediatric neuromyelitis optica (NMO) with muscle and lung involvement in addition to central nervous system disease. Our patient initially presented with features of area postrema syndrome, then subsequently with optic neuritis. The patient also had recurrent hyperCKemia that responded to corticosteroids. Finally, axillary and hilar adenopathy with pulmonary consolidation were noted as well and responded to immunomodulation. Our case highlights multisystem involvement in NMO including non-infectious pulmonary findings which have not been described in the pediatric population previously...
September 2015: Annals of Indian Academy of Neurology
M Tarnopolsky, E Hoffman, M Giri, J Shoffner, L Brady
Two patients with exercise-induced myalgias and rhabdomyolysis with myoglobinuria were evaluated with muscle biopsy and comprehensive myopathy next generation sequencing (NGS) gene panels. Genetic analysis revealed homozygosity for two known pathogenic SGCA mutations (R284C in Patient 1 and V247M in Patient 2). Muscle biopsy showed minimal changes with normal immunohistochemistry for α-sarcoglycan. Western blotting showed 27% and 35% of normal α-sarcoglycan immunoreactivity when compared to age matched controls, confirming the diagnosis of α-sarcoglycanopathy in both patients...
December 2015: Neuromuscular Disorders: NMD
Constantinos Papadopoulos, George K Papadimas, Kyriaki Kekou, Konstantinos Spengos, Maria Svigou, Sofia Kitsiou-Tzeli, Panagiota Manta
INTRODUCTION: Mutations in the CAV3 gene are usually inherited in an autosomal dominant manner and lead to distinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation. PATIENTS AND METHODS: The features of the first patients with caveolin-3 deficiency from Greece are presented. Patients' phenotypes ranged from asymptomatic creatine kinase elevation to severe weakness of lower extremities. Clinical evaluation disclosed muscle hypertrophy in 2 patients, whereas percussion-induced muscle mounding was a consistent finding in all of them...
July 2015: Neurologist
Antonella Taglia, Roberta Petillo, Paola D'Ambrosio, Esther Picillo, Annalaura Torella, Chiara Orsini, Manuela Ergoli, Marianna Scutifero, Luigia Passamano, Alberto Palladino, Gerardo Nigro, Luisa Politano
Becker muscular dystrophy (BMD) was first described in 1953 by Emile Becker as a benign variant of Duchenne muscular Dystrophy (DMD). Compared with DMD, BMD is clinically more heterogeneous, with initial presentation in the teenage years and loss of ambulation beyond the age of 16 and a wide spectrum of clinical presentations, ranging from only myalgias and muscle cramps to exercise intolerance and myoglobinuria, asymptomatic elevation of serum creatin-kinase, or mild limb-girdle weakness and quadriceps myopathy...
May 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
P Kokotis, G K Papadimas, V Zouvelou, T Zambelis, P Manta, N Karandreas
: Purpose/Aim of the study: An increased serum level of creatine kinase in asymptomatic individuals is a diagnostic challenge, as it may be associated with either physiological conditions, such as exercise or even signal an ominous neuromuscular disease at a presymptomatic stage. The electromyogram and the muscle biopsy play a key role in the evaluation of asymptomatic hyperckemia. The objective of this study was to investigate asymptomatic individuals with increased creatine kinase levels...
May 22, 2015: International Journal of Neuroscience
L Iaccarino, E Pegoraro, L Bello, S Bettio, E Borella, L Nalotto, C Semplicini, G Sorarù, A Ghirardello, A Doria
Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by inflammation of the skeletal muscle. Weakness, mainly affecting the proximal muscles, is the cardinal muscular symptom in IIM. In patients with dermatomyositis, peculiar skin lesions are observed. The assessment of patients with IIM includes clinical and laboratory evaluation, and clinimetric measurements. Different tools have been proposed to measure muscular and extramuscular disease activity and damage in patients with IIM...
December 2014: Auto- Immunity Highlights
E Gutiérrez-Rivas, J Bautista, J J Vílchez, N Muelas, J Díaz-Manera, I Illa, A Martínez-Arroyo, M Olivé, I Sanz, J Arpa, R Fernández-Torrón, A López de Munáin, L Jiménez, J Solera, Z Lukacs
We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically...
July 2015: Neuromuscular Disorders: NMD
M Snoeck, B G M van Engelen, B Küsters, M Lammens, R Meijer, J P F Molenaar, J Raaphorst, C C Verschuuren-Bemelmans, C S M Straathof, L T L Sie, I F de Coo, W L van der Pol, M de Visser, H Scheffer, S Treves, H Jungbluth, N C Voermans, E-J Kamsteeg
BACKGROUND AND PURPOSE: Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these studies have been limited to certain age groups, confined geographical regions or specific conditions. The aim of the present study was to investigate the full spectrum of RYR1-related disorders throughout life and to use this knowledge to increase vigilance concerning malignant hyperthermia...
July 2015: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Josef Finsterer, Claudia Stöllberger, Martin Gencik, Romana Höftberger, Jasmin Rahimi, Johannes Mokocki
INTRODUCTION: Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50-100 repeats have not been reported. CASE REPORT: In a 55-year-old female with a family history of MD1 and a personal history of a single syncope, palpitations, and hyperCKemia, 70 CTG repeats were detected in the DMPK gene. Her brother had presented atypical clinical, electromyographic, and muscle biopsy features since the age of 35 but had been diagnosed with MD1 after he later developed typical distal myotonia...
May 2015: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
Kazuhiro Itaya, Manabu Inoue, Hiroaki Iwanami, Youhei Oonaka, Takahiro Jimi, Hiroo Ichikawa
A 65-year-old man first visited our hospital due to hypercreatinekinasemia (hyperCKemia) (669 IU/l) 12 years ago at age 53. At that time, he had normal muscle strength without other neurological deficits, electromyography (EMG) was normal, and a muscle biopsy obtained from the biceps brachii was intact in routine histochemical studies. These findings led to a diagnosis of idiopathic hyperCKemia that lasted for over a decade. At age 65, the patient became aware of muscle weakness and serum CK was elevated to 4,846 IU/l...
2015: Rinshō Shinkeigaku, Clinical Neurology
Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, Antonio Toscano, Corrado Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro
We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) approach. In 160 LGMD patients, we first sequenced hotspot exons 5 and 20 and then sequenced the remaining part of the coding region. Another 626 patients, recruited using broader inclusion criteria, were directly analyzed by targeted NGS. By combining NGS and Sanger sequencing, we identified 33/786 (4%) patients carrying putative pathogenic changes in both alleles and 23 ANO5 heterozygotes (3%)...
July 2015: Neuromuscular Disorders: NMD
Saeed Bohlega, Dorothy M Monies, Ahmad A Abulaban, Hatem N Murad, Hindi N Alhindi, Brian F Meyer
OBJECTIVE: Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy type 2L (LGMD2L). METHODS: Over a 2-year period from December 2010 to January 2013, the clinical presentations were analyzed and all genes responsible for limb girdle muscular dystrophy (LGMD) were screened in families seen at King Faisal Specialist Hospital and Research Centre, a tertiary care hospital in Riyadh, Saudi Arabia...
April 2015: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
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