Results 71 to 80 of about 561,973 (252)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Orphanet Journal of Rare Diseases, 2020
Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura   +8 more
doaj   +1 more source

Distal Myopathy

The Tohoku Journal of Experimental Medicine, 1990
Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases.
openaire   +3 more sources

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala

Annals of Indian Academy of Neurology
Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of ...
Jayaram Saibaba, Saranya B Gomathy, Santhakumar Senthilvelan, Ramkumar Sugumaran, Sunil K Narayan   +4 more
doaj   +1 more source

Interrater reliability in pediatric high‐resolution anorectal manometry recordings

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives High‐resolution anorectal manometry (HR‐ARM) is a diagnostic test assessing anorectal neuromuscular function in children with constipation and/or fecal incontinence. Interrater reliability of HR‐ARM in children has not been previously studied. The aim of this study was to assess the interrater reliability of pediatric HR‐ARM studies.
Julia M. J. van der Zande, Marc A. Benninga, Bruno P. Chumpitazi, Anil Darbari, Jose M. Garza, Julie Khlevner, Samuel Nurko, Miguel Saps, Karla Vaz, Sujithra Velayuthan, Md Rejuan Haque, Carlo Di Lorenzo, Peter L. Lu   +12 more
wiley   +1 more source

Inclusion body myositis: therapeutic approaches. [PDF]

, 2012
The idiopathic inflammatory myopathies are a heterogeneous group of diseases that include dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and other less common myopathies.
Aggarwal, Rohit, Oddis, Chester V
core   +1 more source

Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

JPGN Reports, EarlyView.
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski, Gary Galante, Kiera Pajunen, Marie‐Anne Brundler, Samarjeet Bhandal, Iwona Wrobel   +5 more
wiley   +1 more source

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]

, 2015
BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D., Huebner, A., Jung, H.H., Kana, V., Kress, W., Kuntzer, T., Lobrinus, J.A., Petersen, J.A., Rushing, E.J., Sinnreich, M., von der Hagen, M.   +10 more
core   +3 more sources

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

Frontiers in Neurology, 2020
Background: Myofibrillar myopathy is a group of hereditary neuromuscular disorders characterized by dissolution of myofibrils and abnormal intracellular accumulation of Z disc-related proteins.
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang   +6 more
doaj   +1 more source