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Browsing Category
Neuromuscular Disorders
Patient and parent oriented tools to assess health-related quality of life, activity of daily living…
Eugenio Mercuri, Sonia Messina, Jacqueline Montes, Amy Pasternak, Erik Henricson, Anna Lia Frongia, Mencia de Lemus, Nicole Gusset, Mary Schroth, Ksenija Gorni, Marcus Droege, Ivana Rubino, Francesco Muntoni, Valeria A Sansone, SMA PROM working group
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Twenty-five participants from Italy, United States, United Kingdom, Germany, Spain and Switzerland met to discuss Patient Reported Outcome Measures (PROM) in Spinal Muscular atrophy (SMA). The group included physicians and physical…
A Mutation in MTM1 Causes X-Linked Myotubular Myopathy in Boykin Spaniels
Natasha J. Olby, Steven Friedenberg, Kathryn Meurs, Dylan DeProspero, Julien Guevar, Jeanie Lau, Oriana Yost, Ling T. Guo, G. Diane Shelton
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Centronuclear myopathies are rare but devastating causes of congenital myopathy grouped together based on their characteristic histopathological findings . Within this group of myopathies, X-linked myotubular myopathy (XLMTM, OMIM 310400)…
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro)…
Pushpa Raj Joshi, Karen Baty, Sila Hopton, Isabell Cordts, Gavin Falkous, Benedikt Schoser, Emma L. Blakely, Robert W. Taylor, Marcus Deschauer
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Mitochondrial diseases are a group of inherited, metabolic disorders with heterogeneous, systemic or organ-specific symptoms, often showing poor phenotype–genotype correlation. As a direct consequence, the presence of heterogeneous clinical…
Cognitive impairment appears progressive in the mdx mouse
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease, occurring at an incidence of 1 in 3,600-10,000 live male births . DMD is characterised by a severe pathology of the skeletal musculature causing progressive loss of muscle,…
Clinical features of inherited neuropathy with BSCL2 mutations in Japan
Satoshi Ishihara,
Yuji Okamoto,
Hajime Tanabe,
Akiko Yoshimura,
Yujiro Higuchi,
Jun‐Hui Yuan,
Akihiro Hashiguchi,
Hiroyuki Ishiura,
Jun Mitsui,
Shugo Suwazono,
Yasushi Oya,
Masayuki Sasaki,
Masanori Nakagawa,
Shoji Tsuji,
Yusuke Ohya,
Hiroshi Takashima
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Abstract
Heterozygous mutations in the Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor…
Chronic pain is common in mitochondrial disease
Jelle van den Ameele, Joshua Fuge, Robert D.S. Pitceathly, Sarah Berry, Zoe McIntyre, Michael G. Hanna, Michael Lee, Patrick F. Chinnery
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Mitochondrial diseases are genetic disorders caused by mutations in the mitochondrial and nuclear genomes that cause dysfunction of oxidative phosphorylation and affect approximately 1 in 5,000 people in the UK . Curative treatments are…
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes
Dropped head syndrome (DHS) can be the presenting feature of a wide spectrum of neurological conditions affecting the central and peripheral nervous systems, and can be due to underlying neck extension weakness or dystonia. Among central…
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes
Dropped head syndrome (DHS) can be the presenting feature of a wide spectrum of neurological conditions affecting the central and peripheral nervous systems, and can be due to underlying neck extension weakness or dystonia. Among central…