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11 results on '"LIMB GIRDLE MUSCLE WEAKNESS"'

1. GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Author

Desikan, Mahalekshmi, Scalco, Renata Siciliani, Manole, Andreea, Gardiner, Alice R., Schapira, Anthony H., Lachmann, Robin H., Houlden, Henry, Holton, Janice L., Phadke, Rahul, and Quinlivan, Ros

Subjects
*GLYCOGEN storage disease, *MUSCLE weakness, *GENETIC mutation, *NUCLEOTIDE sequencing, *PHENOTYPES, *DIAGNOSIS
Abstract

An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). Retrospective review of muscle pathology revealed a florid vacuolar myopathy with histochemical and ultrastructural features consistent with a polyglucosan storage myopathy. No cardiac symptoms were reported. Our case is consistent with the core phenotype of GYG1 -related PGBM2 apart from an early onset of weakness without cardiac symptoms. The presence of α-amylase resistant PAS-positive material in skeletal muscle biopsy of patients with slowly progressive limb girdle muscle weakness should prompt the search for GYG1 mutations. This case highlights the combined role of muscle pathology and NGS in the molecular resolution of patients with undiagnosed neuromuscular conditions. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
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2. A database for screening and registering late onset Pompe disease in Turkey.

Author

Gokyigit, Munevver Celik, Ekmekci, Hakan, Durmus, Hacer, Karlı, Necdet, Koseoglu, Emel, Aysal, Fikret, Kotan, Dilcan, Ali, Asuman, Koytak, Pınar Kahraman, Karasoy, Hatice, Yaman, Aylin, Sengun, İhsan Sukru, Sayin, Refah, Tiftikcioglu, Bedile Irem, Soysal, Aysun, Tutkavul, Kemal, Bayrak, Ayse Oytun, Kısabay, Aysin, Elci, Mehmet Ali, and Yayla, Vildan

Subjects
*GLYCOGEN storage disease type II, *MEDICAL screening, *MEDICAL databases, *CREATINE kinase, *ALPHA-glucosidases, *DIAGNOSIS
Abstract

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

3. GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)

Author

Robin H. Lachmann, Janice L. Holton, Ros Quinlivan, M. Desikan, Anthony H.V. Schapira, Renata S Scalco, Rahul Phadke, Andreea Manole, Henry Houlden, and A. Gardiner

Subjects
0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Molecular resolution, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, medicine, Humans, Glycogen storage disease, LIMB GIRDLE MUSCLE WEAKNESS, POLYGLUCOSAN BODY MYOPATHY 2, Muscle, Skeletal, Myopathy, Genetics (clinical), Glycoproteins, Retrospective Studies, Early onset, Aged, 80 and over, Muscle Weakness, business.industry, Limb-girdle myopathy, Glycogen Storage Disease, medicine.disease, Muscular Atrophy, 030104 developmental biology, Neurology, Glucosyltransferases, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). Retrospective review of muscle pathology revealed a florid vacuolar myopathy with histochemical and ultrastructural features consistent with a polyglucosan storage myopathy. No cardiac symptoms were reported. Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early onset of weakness without cardiac symptoms. The presence of α-amylase resistant PAS-positive material in skeletal muscle biopsy of patients with slowly progressive limb girdle muscle weakness should prompt the search for GYG1 mutations. This case highlights the combined role of muscle pathology and NGS in the molecular resolution of patients with undiagnosed neuromuscular conditions.

Published
2018

4. Turkey

Author

Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, and Oflazer, PS

Subjects
LOPD, Registry, Limb girdle muscle weakness, Acid alpha glucosidase
Abstract

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.

Published
2018

5. A database for screening and registering late onset Pompe disease in Turkey

Author

Gokyigit, M.C., Ekmekci, H., Durmus, H., Karlı, N., Koseoglu, E., Aysal, F., Kotan, D., Ali, A., Koytak, P.K., Karasoy, H., Yaman, A., Sengun, İ.S., Sayin, R., Tiftikcioglu, B.I., Soysal, A., Tutkavul, K., Bayrak, A.O., Kısabay, A., Elci, M.A., Yayla, V., Yılmaz, İ.A., Ozdamar, S.E., Erdoğan, Çağdaş, Tasdemir, N., Serdaroglu Oflazer, P., Deymeer, F., Parman, Y., Kendirci, M., Sayan, S., Celebi, L.G., Uluç, K., Tanrıdağ, T., Yuceyar, N., Ekmekci, O., Colakoglu, B.D., Ozturk, S., Tireli, H., Selcuki, D., Neyal, A.M., Kayran, Y., Aluclu, M.U., Koyuncuoglu, H.R., Tokucoglu, F., Secil, Y., Guney, F., Gozke, E., Balaban, H., Akalın, M.A., Koc, A.F., Mulayim, S., Turgut, N., Turkish Study Group for Late Onset Pompe Disease, Gokyigit, Munevver Celik Sisli Hamidiye Etfal Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Ekmekci, Hakan Selcuk Univ Hosp, Dept Neurol, Konya, Turkey, Durmus, Hacer, Oflazer, Piraye Serdaroglu Istanbul Univ, Istanbul Fac Med, Dept Neurol Istanbul, Istanbul, Turkey, Karll, Necdet Uludag Univ Hosp, Dept Neurol, Bursa, Turkey, Koseoglu, Emel Erciyes Univ Hosp, Dept Neurol, Kayseri, Turkey, Aysal, Fikret Medipol Univ Hosp, Istanbul, Turkey, Kotan, Dilcan Sakarya Univ Hosp, Dept Neurol, Sakarya, Turkey, Ali, Asuman Sevket Yilnzaz Res Hosp, Dept Neurol, Bursa, Turkey, Koytak, Pinar Kahraman Marmara Univ Hosp, Dept Neurol, Istanbul, Turkey, Karasoy, Hatice Ege Univ Hosp, Dept Neurol, Izmir, Turkey, Yaman, Aylin Antalya Ed Res Hosp, Dept Neurol, Antalya, Turkey, Sengun, Ihsan Sukru Dokuz Eylul Univ Hosp, Dept Neurol, Izmir, Turkey, Sayin, Refah Yuzuncu Yil Univ Hosp, Dept Neurol, Van, Turkey, Tiftikcioglu, Bedile Irem Tepecik Ed Res Hosp, Izmir, Turkey, Soysal, Aysun Balarkoy Psychiat & Neurol Hosp, Dept Neurol, Istanbul, Turkey, Tutkavul, Kemal Haydarpa Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Bayrak, Ayse Oytun Ondokuz Maps Univ Hosp, Dept Neurol, Samsun, Turkey, Kisabay, Aysin Celal Bayar Univ Hosp, Dept Neurol Manisa, Manisa, Turkey, Elci, Mehmet Ali Gaziantep Univ Hosp, Dept Neurol Gaziantep, Gaziantep, Turkey, Yayla, Vildan Balarkoy Sadi Konuk Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Yilmaz, Ibrahim Arda Mersin Univ Hosp, Dept Neurol, Mersin, Turkey, Ozdamar, Sevim Erdem Hacettepe Univ Hosp, Dept Neurol, Ankara, Turkey, Erdogan, Cagdas Pamukkale Univ Hosp, Dept Neurol, Denizli, Turkey, Tasdemir, Nebahat Dicle Univ Hosp, Dept Neurol, Diyarbakir, Turkey, Gokyigit, Munevver Celik Beykent Univ, Istanbul, Turkey, Gokyigit, Munevver Celik -- 0000-0002-3395-3460, Uluc, Kayihan -- 0000-0001-6132-2300, Piraye -- 0000-0001-8202-5313, Ekmekci, Hakan -- 0000-0002-5605-2980, Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Selçuk University Hosp., Konya, Turkey, Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey, Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey, Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey, Medipol University Hosp., Istanbul, Turkey, Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey, Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey, Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey, Dept. of Neurology, Ege University Hosp., İzmir, Turkey, Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey, Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey, Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey, Tepecik Ed. Res. Hosp., Izmir, Turkey, Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey, Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey, Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey, Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey, Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey, Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Mersin University Hosp., Mersin, Turkey, Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey, Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey, Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey, Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey, Dept. of Neurology, Ege University Hosp., Izmir, Turkey, Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey, Dept. of Neurology, Selcuk University Hospital, Konya, Turkey, Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey, Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey, Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey, Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey, Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey, Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey, Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey, Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey, Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey, Dept. of Neurology, Cukurova University Hosp., Adana, Turkey, Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey, Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey, Beykent University, Turkey, Çukurova Üniversitesi, Ondokuz Mayıs Üniversitesi, Gokyigit, M.C., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Beykent University, Turkey -- Ekmekci, H., Dept. of Neurology, Selçuk University Hosp., Konya, Turkey -- Durmus, H., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Karlı, N., Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey -- Koseoglu, E., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Aysal, F., Medipol University Hosp., Istanbul, Turkey -- Kotan, D., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Ali, A., Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey -- Koytak, P.K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Karasoy, H., Dept. of Neurology, Ege University Hosp., İzmir, Turkey -- Yaman, A., Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey -- Sengun, İ.S., Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey -- Sayin, R., Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey -- Tiftikcioglu, B.I., Tepecik Ed. Res. Hosp., Izmir, Turkey -- Soysal, A., Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey -- Tutkavul, K., Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey -- Bayrak, A.O., Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey -- Kısabay, A., Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey -- Elci, M.A., Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey -- Yayla, V., Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Yılmaz, İ.A., Dept. of Neurology, Mersin University Hosp., Mersin, Turkey -- Ozdamar, S.E., Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey -- Erdogan, C., Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey -- Tasdemir, N., Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey -- Serdaroglu Oflazer, P., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Deymeer, F., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Parman, Y., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Kendirci, M., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Sayan, S., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Celebi, L.G., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey -- Uluç, K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Tanrıdağ, T., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Yuceyar, N., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Ekmekci, O., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Colakoglu, B.D., Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey -- Ozturk, S., Dept. of Neurology, Selcuk University Hospital, Konya, Turkey -- Tireli, H., Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey -- Selcuki, D., Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey -- Neyal, A.M., Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey -- Kayran, Y., Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Aluclu, M.U., Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey -- Koyuncuoglu, H.R., Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey -- Tokucoglu, F., Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey -- Secil, Y., Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey -- Guney, F., Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey -- Gozke, E., Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey -- Balaban, H., Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey -- Akalın, M.A., Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey -- Koc, A.F., Dept. of Neurology, Cukurova University Hosp., Adana, Turkey -- Mulayim, S., Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey -- Turgut, N., Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey -- Turkish Study Group for Late Onset Pompe Disease, Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, Oflazer, PS, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, and Kotan Dündar, Dilcan

Subjects
0301 basic medicine, glycogen storage disease type 2, Pediatrics, enzyme assay, Databases, Factual, Turkey, Turkey (republic), 0302 clinical medicine, data base, Glycogen storage disease type II, Prevalence, Mass Screening, creatine kinase blood level, Registries, Age of Onset, Genetics (clinical), medicine.diagnostic_test, Glycogen Storage Disease Type II, adult, genetic screening, Creatine Kinase/blood, Glycogen Storage Disease Type II/blood/diagnosis/*epidemiology, Humans, Turkey/epidemiology, Dried blood spot, aged, female, Neurology, priority journal, LOPD, Acid alpha-glucosidase, histopathology, disease registry, medicine.symptom, myopathy, mutational analysis, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Registry, electrodiagnosis, Late onset, Article, enzyme blood level, 03 medical and health sciences, male, respiratory distress, medicine, controlled study, human, Myopathy, Acid alpha glucosidase, Mass screening, Genetic testing, muscle weakness, business.industry, creatine kinase, screening, glucan 1,4 alpha glucosidase, medicine.disease, major clinical study, human tissue, late onset disorder, Limb girdle muscle weakness, 030104 developmental biology, multicenter study, Pediatrics, Perinatology and Child Health, Neurosciences & Neurology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
Abstract

WOS: 000430763800010 PubMed ID: 29395671 The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.

Published
2018

6. P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

Author

A. Topf, A. Casasus, R. Barresi, K. Johnson, M. Mroczek, J. Duff, L. Phillips, E. England, L. Xu, E. Valkanas, D. MacArthur, V. Straub, and null MYO-SEQ consortium

Subjects
medicine.medical_specialty, Neurology, business.industry, Interpretation (philosophy), Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, medicine, Neurology (clinical), LIMB GIRDLE MUSCLE WEAKNESS, business, Gene, Genetics (clinical)
Published
2019

7. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

Author

Kutluhan Yilmaz, Gülhan Sözen, Bülent Kara, Gunes Sager, Dilsad Turkdogan, Olcay Ünver, Sema Saltik, Elif Yüksel Karatoprak, Büşra Kutlubay, Ayfer Sakarya Güneş, and Nilüfer Eldeş Hacıfazlıoğlu

Subjects
0301 basic medicine, Male, Risk, medicine.medical_specialty, Adolescent, Turkey, Late onset, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, LIMB GIRDLE MUSCLE WEAKNESS, Genetic Testing, Age of Onset, Child, Creatine Kinase, Genetics (clinical), business.industry, Glycogen Storage Disease Type II, Muscle weakness, Infant, alpha-Glucosidases, Enzyme replacement therapy, Dried blood spot, Surgery, 030104 developmental biology, Neurology, Multicenter study, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Population study, Female, Neurology (clinical), Dried Blood Spot Testing, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

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. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered.

Published
2016

8. Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

Author

Ozge Ceren Amuk, Maria Antonietta Maioli, Edoardo Malfatti, H. Orhan Akman, Norma B. Romero, Salvatore DiMauro, G. Marrosu, Rachele Piras, Yavuz Aykit, Columbia University Medical Center, Columbia University Irving Medical Center (CUIMC), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari, Italy, and HAL-UPMC, Gestionnaire

Subjects
0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Late onset, medicine.disease_cause, glycogenin deficiency, Article, 03 medical and health sciences, 0302 clinical medicine, glycogenosis, medicine, Intronic Mutation, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Glycogen storage disease, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, LIMB GIRDLE MUSCLE WEAKNESS, Glycogen synthase, Myopathy, Muscle, Skeletal, Glucans, Genetics (clinical), Aged, Glycoproteins, Genetics, Mutation, biology, Homozygote, Middle Aged, medicine.disease, Glycogen Storage Disease, Magnetic Resonance Imaging, polyglucosan myopathy, 030104 developmental biology, Neurology, Glucosyltransferases, Pediatrics, Perinatology and Child Health, GYG1, biology.protein, Female, Neurology (clinical), Primer (molecular biology), medicine.symptom, Nervous System Diseases, 030217 neurology & neurosurgery
Abstract

International audience; Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset polyglucosan myopathy has prompted us to find new genetic defects in the gene (GYG1) encoding glycogenin-1, the crucial primer enzyme of glycogen synthesis in muscle.We found a single homozygous intronic mutation harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages.

Published
2015

9. Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations

Author

Paul Maddison, Anna Łusakowska, M. Bertoli, Andreas Hahn, Volker Straub, Kristl G. Claeys, John Vissing, L. Xu, V. Rakocevic Stojanovic, Stojan Peric, Katherine Johnson, Monkol Lek, Ela Akay, Alexandra Bastian, L. Phillips, Daniel G. MacArthur, and Ana Töpf

Subjects
0303 health sciences, business.industry, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), LIMB GIRDLE MUSCLE WEAKNESS, business, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, 030304 developmental biology
Published
2016

10. Limb-girdle muscle weakness

Author

D Veitch, Coziana Ciurtin, Maria Mouyis, and S Valentino

Subjects
medicine.medical_specialty, Muscle Weakness, medicine.diagnostic_test, business.industry, Muscle weakness, Physical examination, Limb girdle, General Medicine, Diagnosis, Differential, Physical medicine and rehabilitation, Muscular Dystrophies, Limb-Girdle, medicine, Physical therapy, Humans, Genetic Predisposition to Disease, LIMB GIRDLE MUSCLE WEAKNESS, medicine.symptom, business, Physical Examination, Diagnostic Techniques and Procedures
Published
2014

11. Hypovitaminosis D-related myopathy in immigrant teenagers

Author

Theo J. W. Fiselier, J.J. van der Heyden, Aad Verrips, B. J. Otten, and H.J. ter Laak

Subjects
medicine.medical_specialty, Adolescent, Somalia, Parathyroid hormone, Physiology, vitamin D deficiency, Hypovitaminosis, Internal medicine, medicine, Vitamin D and neurology, Humans, LIMB GIRDLE MUSCLE WEAKNESS, Child, Myopathy, Netherlands, Muscle Weakness, Vitamin d supplementation, business.industry, Endocrinology and reproduction [UMCN 5.2], Muscle weakness, General Medicine, Emigration and Immigration, Vitamin D Deficiency, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Tumor microenvironment [UMCN 1.3], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Iraq, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business
Abstract

Contains fulltext : 58241.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Vitamin D deficiency resulting in a limb-girdle muscle weakness was diagnosed in three veiled immigrant teenage girls. PATIENTS: Three girls had a progressive muscle weakness and pain during a period varying from 6 months to two years. On examination limb girdle muscle weakness, predominantly of the lower extremities, without other neurological abnormalities was found. Serum examination showed a decreased level of vitamin D and phosphate and an increased alkaline phosphatase, and in two girls decreased calcium and increased parathyroid hormone levels were found. After supplementation with vitamin D, the pain subsided and muscle strength increased within weeks. Serum examination of the female relatives revealed eight persons with hypovitaminosis D, without any complaints. CONCLUSIONS: Vitamin D deficiency can result in a limb-girdle myopathy in veiled immigrant teenagers in the Netherlands. Vitamin D supplementation leads to rapid recovery of the muscle strength. The female relatives of these patients should be examined too.

Published
2004

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